KEGG   VARIANT: 26277v1
Entry
26277v1                      Variant                               
Name
TINF2 mutation
Type
Loss of function
Gene
TINF2  TERF1 interacting nuclear factor 2 [KO:K11112]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604319
Network
nt06510  Telomere length regulation
Disease
H00507  Dyskeratosis congenita
Reference
PMID:18252230
  Authors
Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP
  Title
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
  Journal
Am J Hum Genet 82:501-9 (2008)
DOI:10.1016/j.ajhg.2007.10.004
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