KEGG   VARIANT: 55651v1
Entry
55651v1                      Variant                               
Name
NHP2 mutation
Type
Loss of function
Gene
NHP2  NHP2 ribonucleoprotein [KO:K11129]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606470
Network
nt06510  Telomere length regulation
Disease
H00507  Dyskeratosis congenita
Reference
PMID:18523010
  Authors
Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I
  Title
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
  Journal
Proc Natl Acad Sci U S A 105:8073-8 (2008)
DOI:10.1073/pnas.0800042105
LinkDB

DBGET integrated database retrieval system