Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319: 1668-1672, 2008 (PubMed ID: 18309045)

Mutations

TARDBP: (Ala90Val) (Gly294Ala) (Gln331Lys) (Met337Val)

ID: 595


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic


Selection:
Publication ID In (595)



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