KEGG   VARIANT: 23020v1
Entry
23020v1                      Variant                               
Name
SNRNP200 mutation
Type
Loss of function
Gene
SNRNP200  small nuclear ribonucleoprotein U5 subunit 200 [KO:K12854]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601664
Network
nt06547  Spliceosome
Disease
H00527  Retinitis pigmentosa
Reference
PMID:19878916
  Authors
Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger SP, Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C
  Title
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.
  Journal
Am J Hum Genet 85:617-27 (2009)
DOI:10.1016/j.ajhg.2009.09.020
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