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Publications
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Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304: 1158-60, 2004 (PubMed ID: 15087508) |
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PINK1:
(IVS1-7A>G)
(Gly309Asp)
(Arg312)
(IVS4-5G>A)
(Ala340Thr)
(Trp437Stop)
(Asn521Thr)
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ID: 316 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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