-
1
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
Den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
2
-
-
0029848852
-
Update on nomenclature for human gene mutations
-
Ad Hoc Committee on Mutation Nomenclature (1996) Update on nomenclature for human gene mutations. Hum Mutat 8:197-202
-
(1996)
Hum Mutat
, vol.8
, pp. 197-202
-
-
-
3
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
Antonarakis SE (1998) Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3
-
(1998)
Hum Mutat
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
4
-
-
84961616450
-
HGVS recommendations for the description of sequence variants: 2016 update
-
Den Dunnen JT, Dalgelish R, Maglott DR et al (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat 37:564-569
-
(2016)
Hum Mutat
, vol.37
, pp. 564-569
-
-
Den Dunnen, J.T.1
Dalgelish, R.2
Maglott, D.R.3
-
5
-
-
38149063754
-
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
-
Wildeman M, van Ophuizen E, den Dunnen JT et al (2008) Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29:6-13
-
(2008)
Hum Mutat
, vol.29
, pp. 6-13
-
-
Wildeman, M.1
Van Ophuizen, E.2
Den Dunnen, J.T.3
-
6
-
-
84928990715
-
A Python package for parsing, validating, mapping and formatt ing sequence variants using HGVS nomenclature
-
Hart RK, Rico R, Hare E et al (2014) A Python package for parsing, validating, mapping and formatt ing sequence variants using HGVS nomenclature. Bioinformatics 31:268-270
-
(2014)
Bioinformatics
, vol.31
, pp. 268-270
-
-
Hart, R.K.1
Rico, R.2
Hare, E.3
-
7
-
-
77954314621
-
Locus Reference Genomic sequences: An improved basis for describing human DNA variants
-
1-24.7
-
Dalgleish R, Flicek P, Cunningham F et al (2010) Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med 2:24.1-24.7
-
(2010)
Genome Med
, vol.2
-
-
Dalgleish, R.1
Flicek, P.2
Cunningham, F.3
-
8
-
-
84976871272
-
Reference sequence (RefSeq) database at NCBI: Current status, taxonomic expansion, and functional annotation
-
O’Leary NA, Wright MW, Brister JR et al (2016) Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res 44:D733-D745
-
(2016)
Nucleic Acids Res
, vol.44
, pp. D733-D745
-
-
O’Leary, N.A.1
Wright, M.W.2
Brister, J.R.3
-
9
-
-
84987566762
-
Nomenclature and symbolism for amino acids and peptides. Recommendations 1983
-
IUPAC-IUB Joint Commission on Biochemical Nomenclature (1984) Nomenclature and symbolism for amino acids and peptides. Recommendations 1983. Eur J Biochem 138:9-37
-
(1984)
Eur J Biochem
, vol.138
, pp. 9-37
-
-
-
10
-
-
84950237588
-
An efficient algorithm for the extraction of HGVS variant descriptions from sequences
-
Vis JK, Vermaat M, Taschner PE, et al (2015) An efficient algorithm for the extraction of HGVS variant descriptions from sequences. Bioinformatics 31:3751-3757
-
(2015)
Bioinformatics
, vol.31
, pp. 3751-3757
-
-
Vis, J.K.1
Vermaat, M.2
Taschner, P.E.3
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