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Publications
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Guo JF, Xiao B, Liao B, Zhang XW, Nie LL, Zhang YH, Shen L, Jiang H, Xia K, Pan Q, Yan XX, Tang BS. Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. Mov Disord 23: 2074-9, 2008 (PubMed ID: 18785233) |
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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))
(Gln34fs)
(Cys253Phe)
(Cys323fs)
(Cys441Arg)
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ID: 273 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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