KEGG   VARIANT: 79753v1
Entry
79753v1                      Variant                               
Name
SNIP1 mutation
Type
Loss of function
Gene
SNIP1  Smad nuclear interacting protein 1 [KO:K13108]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608241
Network
nt06547  Spliceosome
Disease
H03019  Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures
Reference
PMID:22279524
  Authors
Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA
  Title
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
  Journal
PLoS One 7:e28936 (2012)
DOI:10.1371/journal.pone.0028936
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