KEGG   VARIANT: 92345v1
Entry
92345v1                      Variant                               
Name
NAF1 mutation
Type
Loss of function
Gene
NAF1  nuclear assembly factor 1 ribonucleoprotein [KO:K14763]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 617868
Network
nt06510  Telomere length regulation
Disease
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Reference
PMID:27510903
  Authors
Stanley SE, Gable DL, Wagner CL, Carlile TM, Hanumanthu VS, Podlevsky JD, Khalil SE, DeZern AE, Rojas-Duran MF, Applegate CD, Alder JK, Parry EM, Gilbert WV, Armanios M
  Title
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.
  Journal
Sci Transl Med 8:351ra107 (2016)
DOI:10.1126/scitranslmed.aaf7837
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