Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Publications

Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, Hibberd R, Hollinger HC, Wharton SB, Morrison KE, Ince PG, McDermott CJ, Shaw PJ. Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. Neurogenetics 11: 217-225, 2010 (PubMed ID: 19760257)

Mutations

TARDBP: (Leu27) (Ala66) (Ala90Val) (Ser104) (Lys137) (Gly287Ser) (Ala321Val) (Met337Val) (Gly348Val)

ID: 653


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


Selection:
Publication ID In (653)



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