KEGG   VARIANT: 7012v1
Entry
7012v1                      Variant                                
Name
TERC mutation
Type
Loss of function
Gene
TERC  telomerase RNA component [KO:K22183]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602322
Network
nt06510  Telomere length regulation
Disease
H00507  Dyskeratosis congenita
H01132  Aplastic anemia
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Reference
PMID:11574891
  Authors
Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I
  Title
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
  Journal
Nature 413:432-5 (2001)
DOI:10.1038/35096585
Reference
PMID:12090986
  Authors
Vulliamy T, Marrone A, Dokal I, Mason PJ
  Title
Association between aplastic anaemia and mutations in telomerase RNA.
  Journal
Lancet 359:2168-70 (2002)
DOI:10.1016/S0140-6736(02)09087-6
LinkDB

DBGET integrated database retrieval system