-
1
-
-
0028090414
-
Genetic dissection of complex traits
-
Lander ES, Schork NJ (1994) Genetic dissection of complex traits. Science 265:2037-2047
-
(1994)
Science
, vol.265
, pp. 2037-2047
-
-
Lander, E.S.1
Schork, N.J.2
-
2
-
-
0037146578
-
Finding genes that underlie complex traits
-
Glazier AM, Nadeau JH, Aitman TJ (2002) Finding genes that underlie complex traits. Science 298:2345-2349
-
(2002)
Science
, vol.298
, pp. 2345-2349
-
-
Glazier, A.M.1
Nadeau, J.H.2
Aitman, T.J.3
-
3
-
-
79959524146
-
A haplotype map of the human genome
-
The International HapMap Consortium
-
The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437:1299-1320
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
4
-
-
24044455869
-
Genome sequencing in microfabricated high-density picolitre reactors
-
Margulies M, Egholm M, Aitman WE, Attiya S, Bader JS, Bemben LA, Berka J, Braverman MS, Chen YJ, Chen ZT, et al (2005) Genome sequencing in microfabricated high-density picolitre reactors. Nature 437:376-380
-
(2005)
Nature
, vol.437
, pp. 376-380
-
-
Margulies, M.1
Egholm, M.2
Aitman, W.E.3
Attiya, S.4
Bader, J.S.5
Bemben, L.A.6
Berka, J.7
Braverman, M.S.8
Chen, Y.J.9
Chen, Z.T.10
-
5
-
-
33646555429
-
Microfabricated bioprocessor for integrated nanoliter-scale Sanger DNA sequencing
-
Blazej RG, Kumaresan P, Mathies RA (2006) Microfabricated bioprocessor for integrated nanoliter-scale Sanger DNA sequencing. Proc Natl Acad Sci USA 103:7240-7245
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 7240-7245
-
-
Blazej, R.G.1
Kumaresan, P.2
Mathies, R.A.3
-
6
-
-
33846041078
-
The universal protein resource (UniProt)
-
The UniProt Consortium
-
The UniProt Consortium (2007) The universal protein resource (UniProt). Nucl Acids Res 35:D193-D197
-
(2007)
Nucl Acids Res
, vol.35
-
-
-
8
-
-
0028076771
-
Genetic studies of the lac repressor XIV: Analysis of 4000 altered Escherichia coli lac repressors reveals essential and non-essential residues, as well as "spacers" which do not require a specific sequence
-
Markiewicz P, Kleina LG, Cruz C, Ehret S, Miller JH (1994) Genetic studies of the lac repressor XIV: analysis of 4000 altered Escherichia coli lac repressors reveals essential and non-essential residues, as well as "spacers" which do not require a specific sequence. J Mol Biol 240:421-433
-
(1994)
J Mol Biol
, vol.240
, pp. 421-433
-
-
Markiewicz, P.1
Kleina, L.G.2
Cruz, C.3
Ehret, S.4
Miller, J.H.5
-
9
-
-
2342519701
-
Genetic studies of the lac repressor XV: 4000 single amino acid substitutions and analysis of the resulting phenotypes on the basis of the protein structure
-
Suckow YJ, Markiewicz P, Kleina LG, Miller J, Kisters-Woike B, Muller-Hill B (1996) Genetic studies of the lac repressor XV: 4000 single amino acid substitutions and analysis of the resulting phenotypes on the basis of the protein structure. J Mol Biol 261:509-523
-
(1996)
J Mol Biol
, vol.261
, pp. 509-523
-
-
Suckow, Y.J.1
Markiewicz, P.2
Kleina, L.G.3
Miller, J.4
Kisters-Woike, B.5
Muller-Hill, B.6
-
10
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11:863-874
-
(2001)
Genome Res
, vol.11
, pp. 863-874
-
-
PC, N.1
Henikoff, S.2
-
11
-
-
0035937259
-
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation
-
Chasman D, Adams RM (2001) Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. J Mol Biol 307:683-706
-
(2001)
J Mol Biol
, vol.307
, pp. 683-706
-
-
Chasman, D.1
Adams, R.M.2
-
12
-
-
0344033683
-
A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function
-
Krishnan VG, Westhead DR (2003) A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function. Bioinformatics 19:2199-2209
-
(2003)
Bioinformatics
, vol.19
, pp. 2199-2209
-
-
Krishnan, V.G.1
Westhead, D.R.2
-
13
-
-
12844272252
-
A hierarchical Bayesian model for predicting the functional consequences of amino-acid polymorphisms
-
Verzilli CJ, Whittaker JC, Stallard N, Chasman D (2005) A hierarchical Bayesian model for predicting the functional consequences of amino-acid polymorphisms. Appl Statist 54: 191-206
-
(2005)
Appl Statist
, vol.54
, pp. 191-206
-
-
Verzilli, C.J.1
Whittaker, J.C.2
Stallard, N.3
Chasman, D.4
-
14
-
-
0036387236
-
Evaluation of structural and evolutionary contributions to deleterious mutation prediction
-
Saunders CT, Barker D (2002) Evaluation of structural and evolutionary contributions to deleterious mutation prediction. J Mol Biol 322:891-901
-
(2002)
J Mol Biol
, vol.322
, pp. 891-901
-
-
Saunders, C.T.1
Barker, D.2
-
15
-
-
2342626490
-
Functional classification of proteins and protein variants
-
Lau AV, Chasman DI (2004) Functional classification of proteins and protein variants. Proc Natl Acad Sci USA 101:6576-6581
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 6576-6581
-
-
Lau, A.V.1
Chasman, D.I.2
-
16
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S, Ramensky V, Koch I, Lathe III W, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591-597
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe III, W.4
Kondrashov, A.S.5
Bork, P.6
-
17
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucl Acids Res 30:3894-3900
-
(2002)
Nucl Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
18
-
-
16244401676
-
Sequence variation in G-protein-coupled receptors: Analysis of single nucleotide polymorphisms
-
Balasubramanian S, Xia Y, Freinkman E, Gerstein M (2005) Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms. Nucl Acids Res 33:1710-1721
-
(2005)
Nucl Acids Res
, vol.33
, pp. 1710-1721
-
-
Balasubramanian, S.1
Xia, Y.2
Freinkman, E.3
Gerstein, M.4
-
19
-
-
33645764714
-
SNPs3D: Candidate gene and SNP selection for association studies
-
Yue P, Melamud E, Moult J (2006) SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 7:166
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 166
-
-
Yue, P.1
Melamud, E.2
Moult, J.3
-
20
-
-
0036300807
-
Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties
-
Ferrer-Costa C, Orozco M, de la Cruz X (2002) Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties. J Mol Biol 315:771-786
-
(2002)
J Mol Biol
, vol.315
, pp. 771-786
-
-
Ferrer-Costa, C.1
Orozco, M.2
de la Cruz, X.3
-
21
-
-
10344242920
-
Sequence-based prediction of pathological mutations
-
Ferrer-Costa C, Orozco M, de la Cruz X (2004) Sequence-based prediction of pathological mutations. Proteins 57:811-819
-
(2004)
Proteins
, vol.57
, pp. 811-819
-
-
Ferrer-Costa, C.1
Orozco, M.2
de la Cruz, X.3
-
22
-
-
19544392545
-
Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information
-
Bao L, Cui Y (2005) Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information. Bioinformatics 21: 2185-2190
-
(2005)
Bioinformatics
, vol.21
, pp. 2185-2190
-
-
Bao, L.1
Cui, Y.2
-
23
-
-
33750578872
-
Searching for interpretable rules for disease mutations: A simulated annealing bump hunting strategy
-
Jiang R, Yang H, Sun F, Chen T (2006) Searching for interpretable rules for disease mutations: a simulated annealing bump hunting strategy. BMC Bioinformatics 7:417
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 417
-
-
Jiang, R.1
Yang, H.2
Sun, F.3
Chen, T.4
-
25
-
-
0003802343
-
-
Wadsworth, Belmont, CA
-
Breiman L, Friedman J, Olshen R, Stone C (1984) Classification and regression trees. Wadsworth, Belmont, CA
-
(1984)
Classification and regression trees
-
-
Breiman, L.1
Friedman, J.2
Olshen, R.3
Stone, C.4
-
26
-
-
85030517738
-
-
Quinlan JR (1993) C4.5: programs for machine learning. Morgan Kaufmann, San Mateo, CA
-
Quinlan JR (1993) C4.5: programs for machine learning. Morgan Kaufmann, San Mateo, CA
-
-
-
-
28
-
-
29144499905
-
Working set selection using the second order information for training support vector machines
-
Fan RE, Chen PH, Lin CJ (2005) Working set selection using the second order information for training support vector machines. J Machine Learning Res 69:1889-1918
-
(2005)
J Machine Learning Res
, vol.69
, pp. 1889-1918
-
-
Fan, R.E.1
Chen, P.H.2
Lin, C.J.3
-
29
-
-
0035478854
-
Random forests
-
Breiman L (2001) Random forests. Machine Learning 45:5-32
-
(2001)
Machine Learning
, vol.45
, pp. 5-32
-
-
Breiman, L.1
-
30
-
-
33644876924
-
-
Birney E, Andrews D, Caccamo M, Chen Y, Clarke L, Coates G, Cox T, Cunningham F, Curwen V, Cutts T, et al (2006) Ensembl 2006. Nucl Acids Res 34:D556-D561
-
(2006)
Ensembl 2006. Nucl Acids Res
, vol.34
-
-
Birney, E.1
Andrews, D.2
Caccamo, M.3
Chen, Y.4
Clarke, L.5
Coates, G.6
Cox, T.7
Cunningham, F.8
Curwen, V.9
Cutts, T.10
-
31
-
-
85030507062
-
Pfam: Clans, web tools and services
-
Robert DF, Jaina M, Berjamin SB, Sam GJ, Volker H, Timo L, Simon M, Mhairi M, Ajay K, Richard D, et al (2006) Pfam: clans, web tools and services. Nucl Acids Res 34:D247-D251
-
(2006)
Nucl Acids Res
, vol.34
-
-
Robert, D.F.1
Jaina, M.2
Berjamin, S.B.3
Sam, G.J.4
Volker, H.5
Timo, L.6
Simon, M.7
Mhairi, M.8
Ajay, K.9
Richard, D.10
-
32
-
-
0020475449
-
Biological sequence analysis: Probabilistic models of proteins and nucleic acids
-
Kyte J, Doolittle RF (1982) Biological sequence analysis: probabilistic models of proteins and nucleic acids. J Mol Biol 157: 105-132
-
(1982)
J Mol Biol
, vol.157
, pp. 105-132
-
-
Kyte, J.1
Doolittle, R.F.2
-
33
-
-
0003516147
-
-
Cambridge University Press, Cambridge, United Kingdom
-
Durbin R, Eddy S, Krogh A, Mitchison G (1998) Biological sequence analysis: probabilistic models of proteins and nucleic acids. Cambridge University Press, Cambridge, United Kingdom
-
(1998)
Biological sequence analysis: Probabilistic models of proteins and nucleic acids
-
-
Durbin, R.1
Eddy, S.2
Krogh, A.3
Mitchison, G.4
-
34
-
-
0018093765
-
Conformational preferences of amino acids in globular proteins
-
Levitte M (1978) Conformational preferences of amino acids in globular proteins. Biochemistry 17:4277-4285
-
(1978)
Biochemistry
, vol.17
, pp. 4277-4285
-
-
Levitte, M.1
-
36
-
-
33646568805
-
-
Aerts S, Lambrechts D, Maity S, Van Loo P, Coessens B, De Smet F, Tranchevent LC, De Moor B, Marynen P, Hassan B, et al (2006) Gene prioritization through genomic data fusion. Nat Biotechnol 24:537-544 (erratum 24:719)
-
Aerts S, Lambrechts D, Maity S, Van Loo P, Coessens B, De Smet F, Tranchevent LC, De Moor B, Marynen P, Hassan B, et al (2006) Gene prioritization through genomic data fusion. Nat Biotechnol 24:537-544 (erratum 24:719)
-
-
-
-
38
-
-
7444227970
-
Coding single-nucleotide polymorphisms associated with complex vs Mendelian disease: Evolutionary evidence for differences in molecular effects
-
Thomas PD, Kejariwal A (2004) Coding single-nucleotide polymorphisms associated with complex vs Mendelian disease: evolutionary evidence for differences in molecular effects. Proc Natl Acad Sci USA 101:15398-15403
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 15398-15403
-
-
Thomas, P.D.1
Kejariwal, A.2
-
39
-
-
0033624575
-
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
-
Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, et al (2000) The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80
-
(2000)
Nat Genet
, vol.26
, pp. 76-80
-
-
Altshuler, D.1
Hirschhorn, J.N.2
Klannemark, M.3
Lindgren, C.M.4
Vohl, M.C.5
Nemesh, J.6
Lane, C.R.7
Schaffner, S.F.8
Bolk, S.9
Brewer, C.10
-
40
-
-
0033599038
-
Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension
-
Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW, Soos MA, Maslen GL, Williams TD, Lewis H, Schafer AJ, et al (1999) Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 402:880-883
-
(1999)
Nature
, vol.402
, pp. 880-883
-
-
Barroso, I.1
Gurnell, M.2
Crowley, V.E.3
Agostini, M.4
Schwabe, J.W.5
Soos, M.A.6
Maslen, G.L.7
Williams, T.D.8
Lewis, H.9
Schafer, A.J.10
-
41
-
-
33748937223
-
Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance
-
Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D, Smith A, Rajanayagam O, Semple R, Luan J, Bath L, et al (2006) Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance. Cell Metab 4:303-311
-
(2006)
Cell Metab
, vol.4
, pp. 303-311
-
-
Agostini, M.1
Schoenmakers, E.2
Mitchell, C.3
Szatmari, I.4
Savage, D.5
Smith, A.6
Rajanayagam, O.7
Semple, R.8
Luan, J.9
Bath, L.10
-
42
-
-
0036894397
-
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy
-
Hegele RA, Cao H, Frankowski C, Mathews ST, Leff T (2002) PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes 51:3586-3590
-
(2002)
Diabetes
, vol.51
, pp. 3586-3590
-
-
Hegele, R.A.1
Cao, H.2
Frankowski, C.3
Mathews, S.T.4
Leff, T.5
-
43
-
-
0036146384
-
A novel heterozygous mutation in peroxisome proliferator-activated receptor-γ gene in a patient with familial partial lipodystrophy
-
Agarwal AK, Garg A (2002) A novel heterozygous mutation in peroxisome proliferator-activated receptor-γ gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab 87:408-411
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 408-411
-
-
Agarwal, A.K.1
Garg, A.2
-
44
-
-
0022869235
-
Hemoglobin la desirade alpha A2 beta 2 129(H7) Ala - Val: A new unstable hemoglobin
-
Merault G, Keclard L, Garin J, Poyart C, Blouquit Y, Arous N, Galacteros F, Feingold J, Rosa J (1986) Hemoglobin la desirade alpha A2 beta 2 129(H7) Ala - Val: a new unstable hemoglobin. Hemoglobin 10:593-605
-
(1986)
Hemoglobin
, vol.10
, pp. 593-605
-
-
Merault, G.1
Keclard, L.2
Garin, J.3
Poyart, C.4
Blouquit, Y.5
Arous, N.6
Galacteros, F.7
Feingold, J.8
Rosa, J.9
-
45
-
-
0014688939
-
Physiologic implications of a hemoglobin with decreased oxygen affinity (hemoglobin Seattle)
-
Stamatoyannopoulos G, Parer JT, Finch CA (1969) Physiologic implications of a hemoglobin with decreased oxygen affinity (hemoglobin Seattle). N Eng J Med 281:916-919
-
(1969)
N Eng J Med
, vol.281
, pp. 916-919
-
-
Stamatoyannopoulos, G.1
Parer, J.T.2
Finch, C.A.3
-
47
-
-
0028303683
-
Hb Seattle [beta 70(E14) Ala→Asp]: A report of a second kindred in a Ukrainian family
-
Chow EY, Haley LP, Krikler SH, Wadsworth LD (1994) Hb Seattle [beta 70(E14) Ala→Asp]: a report of a second kindred in a Ukrainian family. Hemoglobin 18:231-234
-
(1994)
Hemoglobin
, vol.18
, pp. 231-234
-
-
Chow, E.Y.1
Haley, L.P.2
Krikler, S.H.3
Wadsworth, L.D.4
-
48
-
-
0019400686
-
Hemoglobin Connecticut (beta 21 (B3) Asp leads to Gly): A hemoglobin variant with low oxygen affinity
-
Moo-Penn WF, McPhedran P, Bobrow S, Johnson MH, Jue DL, Olsen KW (1981) Hemoglobin Connecticut (beta 21 (B3) Asp leads to Gly): a hemoglobin variant with low oxygen affinity. Am J Hematol 11:137-145
-
(1981)
Am J Hematol
, vol.11
, pp. 137-145
-
-
Moo-Penn, W.F.1
McPhedran, P.2
Bobrow, S.3
Johnson, M.H.4
Jue, D.L.5
Olsen, K.W.6
-
49
-
-
0020585475
-
Hemoglobin saitama or beta 117 (G19) His leads to Pro, a new variant causing hemolytic disease
-
Ohba Y, Hasegawa Y, Amino H, Miwa S, Nakatsuji T, Hattori Y, Miyaji T (1983) Hemoglobin saitama or beta 117 (G19) His leads to Pro, a new variant causing hemolytic disease. Hemoglobin 7:47-56
-
(1983)
Hemoglobin
, vol.7
, pp. 47-56
-
-
Ohba, Y.1
Hasegawa, Y.2
Amino, H.3
Miwa, S.4
Nakatsuji, T.5
Hattori, Y.6
Miyaji, T.7
-
50
-
-
0035173087
-
Variability of the CD36 gene in West Africa
-
Gelhaus A, Scheding A, Browne E, Burchard GD, Horstmann RD (2001) Variability of the CD36 gene in West Africa. Hum Mut 18:444-450
-
(2001)
Hum Mut
, vol.18
, pp. 444-450
-
-
Gelhaus, A.1
Scheding, A.2
Browne, E.3
Burchard, G.D.4
Horstmann, R.D.5
-
51
-
-
11844269243
-
A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia
-
Uckun-Kitapci A, Underwood LE, Zhang J, Moats-Staats B (2005) A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia. Am J Med Genet A 132:125-129
-
(2005)
Am J Med Genet A
, vol.132
, pp. 125-129
-
-
Uckun-Kitapci, A.1
Underwood, L.E.2
Zhang, J.3
Moats-Staats, B.4
-
52
-
-
0028037143
-
2+-sensing receptor gene mutation
-
2+-sensing receptor gene mutation. Nat Genet 8:303-307
-
(1994)
Nat Genet
, vol.8
, pp. 303-307
-
-
Pollak, M.R.1
Brown, E.M.2
Estep, H.L.3
McLaine, P.N.4
Kifor, O.5
Park, J.6
Hebert, S.C.7
Seidman, C.E.8
Seidman, J.G.9
-
53
-
-
0344958862
-
Identification of the gene variations in human CD22
-
Hatta Y, Tsuchiya N, Matsushita M, Shiota M, Hagiwara K, Tokunaga K (1999) Identification of the gene variations in human CD22. Immunogenetics 49:280-286
-
(1999)
Immunogenetics
, vol.49
, pp. 280-286
-
-
Hatta, Y.1
Tsuchiya, N.2
Matsushita, M.3
Shiota, M.4
Hagiwara, K.5
Tokunaga, K.6
-
54
-
-
0025183708
-
Basic local alignment search tool
-
Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
-
(1990)
J Mol Biol
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
55
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
-
Altschul S, Madden T, Schaffer A, Zhang J, Zhang Z, Miller W, Lipman D (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucl Acids Res 25:3389-3402
-
(1997)
Nucl Acids Res
, vol.25
, pp. 3389-3402
-
-
Altschul, S.1
Madden, T.2
Schaffer, A.3
Zhang, J.4
Zhang, Z.5
Miller, W.6
Lipman, D.7
-
56
-
-
0037249501
-
PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification
-
Thomas PD, Kejariwal A, Campbell MJ, Mi HY, Diemer K, Guo N, Ladunga I, Ulitsky-Lazareva B, Muruganujan A, Rabkin S, et al (2003) PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucl Acids Res 31: 334-341
-
(2003)
Nucl Acids Res
, vol.31
, pp. 334-341
-
-
Thomas, P.D.1
Kejariwal, A.2
Campbell, M.J.3
Mi, H.Y.4
Diemer, K.5
Guo, N.6
Ladunga, I.7
Ulitsky-Lazareva, B.8
Muruganujan, A.9
Rabkin, S.10
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