VARIANT: 7486v1
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Entry
7486v1 Variant
Name
WRN mutation
Type
Loss of function
Gene
WRN
WRN RecQ like helicase [KO:
K10900
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
604611
Network
nt06506
Double-strand break repair
Disease
H00296
Defects in RecQ helicases
H01733
Werner syndrome
Reference
PMID:
9012406
Authors
Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu YH, Mulligan J, Martin GM, Schellenberg GD
Title
Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.
Journal
Am J Hum Genet 60:330-41 (1997)
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