KEGG   VARIANT: 55596v1
Entry
55596v1                      Variant                               
Name
ZCCHC8 mutation
Type
Loss of function
Gene
ZCCHC8  zinc finger CCHC-type containing 8 [KO:K13128]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 616381
Network
nt06510  Telomere length regulation
Disease
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Reference
PMID:31488579
  Authors
Gable DL, Gaysinskaya V, Atik CC, Talbot CC Jr, Kang B, Stanley SE, Pugh EW, Amat-Codina N, Schenk KM, Arcasoy MO, Brayton C, Florea L, Armanios M
  Title
ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
  Journal
Genes Dev 33:1381-1396 (2019)
DOI:10.1101/gad.326785.119
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