KEGG   VARIANT: 6628v1
Entry
6628v1                      Variant                                
Name
SNRPB mutation
Type
Loss of function
Gene
SNRPB  small nuclear ribonucleoprotein polypeptides B and B1 [KO:K11086]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 182282
Network
nt06547  Spliceosome
Disease
H01843  Cerebrocostomandibular syndrome
Reference
PMID:25047197
  Authors
Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP
  Title
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
  Journal
Nat Commun 5:4483 (2014)
DOI:10.1038/ncomms5483
LinkDB

DBGET integrated database retrieval system