KEGG   VARIANT: 3636v1
Entry
3636v1                      Variant                                
Name
SHIP2 mutation
Type
Loss of function
Gene
INPPL1  phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 isoform 2 [KO:K15909]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600829
Network
nt06546  IgSF CAM signaling
Disease
H01828  Opsismodysplasia
Reference
PMID:27708270
  Authors
Fradet A, Fitzgerald J
  Title
INPPL1 gene mutations in opsismodysplasia.
  Journal
J Hum Genet 62:135-140 (2017)
DOI:10.1038/jhg.2016.119
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