Publications
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Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 51: 621-5, 2002
(PubMed ID: 12112109)
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PARK2:
(ex2del (breakpoints not mapped))
(ex2trip (breakpoints not mapped))
(ex2-5del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4-5del (breakpoints not mapped))
(ex7dup (breakpoints not mapped))
(ex9dup (breakpoints not mapped))
(Pro37Leu)
(Lys211Asn)
(Arg275Trp)
(Thr351Pro)
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ID: 224 |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic