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Publications
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Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 58: 1239-46, 2002 (PubMed ID: 11971093) |
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PARK2:
(ex1del (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex5dup (breakpoints not mapped))
(c.-21G>T)
(Gln34fs)
(Arg42Pro)
(Asn52fs)
(Pro113fs / ex3 Δ40bp)
(Met192Leu)
(Arg256Cys)
(Leu261)
(Arg275Trp)
(Gly430Asp)
(Pro437Leu)
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ID: 230 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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