KEGG   VARIANT: 5073v1
Entry
5073v1                      Variant                                
Name
PARN mutation
Type
Loss of function
Gene
PARN  poly(A)-specific ribonuclease [KO:K01148]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604212
Network
nt06510  Telomere length regulation
Disease
H00507  Dyskeratosis congenita
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Reference
PMID:26482878
  Authors
Moon DH, Segal M, Boyraz B, Guinan E, Hofmann I, Cahan P, Tai AK, Agarwal S
  Title
Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.
  Journal
Nat Genet 47:1482-8 (2015)
DOI:10.1038/ng.3423
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