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Publications
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Sironi F, Primignani P, Zini M, Tunesi S, Ruffmann C, Ricca S, Brambilla T, Antonini A, Tesei S, Canesi M, Zecchinelli A, Mariani C, Meucci N, Sacilotto G, Cilia R, Isaias IU, Garavaglia B, Ghezzi D, Travi M, Decarli A, Coviello DA, Pezzoli G, Goldwurm S. Parkin analysis in early onset Parkinson's disease. Parkinsonism Relat Disord 14: 326-33, 2008 (PubMed ID: 18519021) |
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PARK2:
(ex2dup (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-5del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex6-7del (breakpoints not mapped))
(Arg42Pro)
(Ala82Glu)
(Met192Leu)
(Cys212fs)
(Ala230Thr)
(Cys238Trp)
(Thr240Met)
(Cys253Tyr)
(Arg275Trp)
(Leu307)
(Arg402Cys)
(Glu409Stop)
(*94A>G)
(*94_95delinsGCGC)
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ID: 278 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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