KEGG   VARIANT: 55505v1
Entry
55505v1                      Variant                               
Name
NOP10 mutation
Type
Loss of function
Gene
NOP10  NOP10 ribonucleoprotein [KO:K11130]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606471
Network
nt06510  Telomere length regulation
Disease
H00507  Dyskeratosis congenita
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Reference
PMID:17507419
  Authors
Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I
  Title
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
  Journal
Hum Mol Genet 16:1619-29 (2007)
DOI:10.1093/hmg/ddm111
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