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Publications
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Paisán-Ruíz C, Nath P, Washecka N, Gibbs JR, Singleton AB. Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Hum Mutat 29: 485-90, 2008 (PubMed ID: 18213618) |
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LRRK2:
(c.-44G>T)
(Leu119Pro)
(Cys228Ser)
(His275)
(Asn289)
(IVS10-4A>G)
(IVS16-14delT)
(Tyr707)
(Met712Val)
(Ala716Val)
(Lys871Glu)
(IVS25-8delT)
(IVS27-9C>T)
(Pro1262Ala)
(Ala1430)
(IVS30+12delT)
(Arg1514Gln)
(Pro1542Ser)
(Met1646Thr)
(Arg1728His)
(Arg1728Leu)
(IVS37-9A>G)
(Met1869Val)
(Leu1870Phe)
(IVS38+7C>T)
(Gly2019Ser)
(Thr2141Met)
(Arg2143His)
(Gly2170)
(Glu2395Lys)
(Gly2432)
(Leu2466His)
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ID: 154 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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