VARIANT: 8106v1
Help
Entry
8106v1 Variant
Name
PABPN1 mutation
Type
Loss of function
Gene
PABPN1
poly(A) binding protein nuclear 1 [KO:
K14396
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
602279
Network
nt06547
Spliceosome
Disease
H00704
Oculopharyngeal muscular dystrophy
Reference
PMID:
9462747
Authors
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA
Title
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
Journal
Nat Genet 18:164-7 (1998)
DOI:
10.1038/ng0298-164
LinkDB
All DBs
DBGET
integrated database retrieval system
