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Publications
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Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Annals of Neurology 43: 815-825, 1998 (PubMed ID: 9629852) |
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MAPT:
(Asp285Asn)
(Asp285)
(Val289Ala)
(EX6 His47Tyr)
(EX6 Ser53Pro)
(Asn255)
(Val337Met)
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ID: 234 | |
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Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Human Mutation 24: 277-295, 2004 (PubMed ID: 15365985) |
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MAPT:
(Gln230Arg)
(Asp285)
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ID: 314 | |
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Stanford PM, Brooks WS, Teber ET, Hallupp M, McLean C, Halliday GM, Martins RN, Kwok JB, Schofield PR. Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. Journal of Neurology 251: 1098-1104, 2004 (PubMed ID: 15372253) |
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MAPT:
(Gly86Ser)
(Pro202Leu)
(Asp285Asn)
(Asp285)
(Val289Ala)
(Arg370Trp)
(EX6 His47Tyr)
(EX6 Ser53Pro)
(Pro176)
(Ala227)
(Asn255)
(Pro270)
(Pro301Leu)
(IVS10+16C>T)
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ID: 327 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (314,327,234)
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