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A human genome diversity cell line panel
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Translation initiator EIF4G1 mutations in familial Parkinson Disease
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Chartier-Harlin M.C., Dachsel J.C., Vilariño-Güell C., Lincoln S.J., Leprêtre F., Hulihan M.M., Kachergus J., Milnerwood A.J., Tapia L., Song M.S., Le Rhun E., Mutez E., Larvor L., Duflot A., Vanbesien-Mailliot C., Kreisler A., Ross O.A., Nishioka K., Soto-Ortolaza A.I., Cobb S.A., Melrose H.L., Behrouz B., Keeling B.H., Bacon J.A., Hentati E., Williams L., Yanagiya A., Sonenberg N., Lockhart P.J., Zubair A.C., Uitti R.J., Aasly J.O., Krygowska-Wajs A., Opala G., Wszolek Z.K., Frigerio R., Maraganore D.M., Gosal D., Lynch T., Hutchinson M., Bentivoglio A.R., Valente E.M., Nichols W.C., Pankratz N., Foroud T., Gibson R.A., Hentati F., Dickson D.W., Destée A., Farrer M.J. Translation initiator EIF4G1 mutations in familial Parkinson Disease. American Journal of Human Genetics 2011, 89:398-406.
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Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data
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Khan N.L., Jain S., Lynch J.M., Pavese N., Abou-Sleiman P., Holton J.L., Healy D.G., Gilks W.P., Sweeney M.G., Ganguly M., Gibbons V., Gandhi S., Vaughan J., Eunson L.H., Katzenschlager R., Gayton J., Lennox G., Revesz T., Nicholl D., Bhatia K.P., Quinn N., Brooks D., Lees A.J., Davis M.B., Piccini P., Singleton A.B., Wood N.W. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain 2005, 128:2786-2796.
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Screening for VPS35 mutations in Parkinson's disease
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Sheerin U.M., Charlesworth G., Bras J., Guerreiro R., Bhatia K., Foltynie T., Limousin P., Silveira-Moriyama L., Lees A., Wood N. Screening for VPS35 mutations in Parkinson's disease. Neurobiology of Aging 2011, 838.e1-838.e5.
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
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Wang K., Li M., Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Research 2010, 38:e164.
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