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Publications
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Maruyama M, Ikeuchi T, Saito M, Ishikawa A, Yuasa T, Tanaka H, Hayashi S, Wakabayashi K, Takahashi H, Tsuji S. Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. Ann Neurol 48: 245-50, 2000 (PubMed ID: 10939576) |
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PARK2:
(ex2-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex6-7del (breakpoints not mapped))
(Arg33Stop)
(Cys431Phe)
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ID: 208 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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