KEGG   VARIANT: 55135v1
Entry
55135v1                      Variant                               
Name
WRAP53 mutation
Type
Loss of function
Gene
WRAP53  WD repeat containing antisense to TP53 [KO:K23314]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612661
Network
nt06510  Telomere length regulation
Disease
H00507  Dyskeratosis congenita
Reference
PMID:21205863
  Authors
Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE
  Title
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
  Journal
Genes Dev 25:11-6 (2011)
DOI:10.1101/gad.2006411
LinkDB

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