KEGG   VARIANT: 1857v1
Entry
1857v1                      Variant                                
Name
DVL3 gain-of-function mutation
Type
Gain of function
Gene
DVL3  segment polarity protein dishevelled homolog DVL-3 [KO:K02353]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601368
Network
nt06505  WNT signaling
nt06549  Cadherin signaling
Disease
H00485  Robinow syndrome
Reference
PMID:33919228
  Authors
Guasto A, Cormier-Daire V
  Title
Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.
  Journal
Int J Mol Sci 22:4321 (2021)
DOI:10.3390/ijms22094321
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