KEGG   VARIANT: 64840v1
Entry
64840v1                      Variant                               
Name
PORCN mutation
Type
Loss of function
Gene
PORCN  porcupine O-acyltransferase [KO:K00181]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300651
Network
nt06505  WNT signaling
Disease
H00949  Focal dermal hypoplasia
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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