KEGG   VARIANT: 5727v2
Entry
5727v2                      Variant                                
Name
PTCH1 mutation
Gene
PTCH1  patched 1 [KO:K06225]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601309
Network
nt06501  HH signaling
Disease
H00267  Holoprosencephaly
H00895  Basal cell nevus syndrome
Reference
PMID:31781166
  Authors
Sasai N, Toriyama M, Kondo T
  Title
Hedgehog Signal and Genetic Disorders.
  Journal
Front Genet 10:1103 (2019)
DOI:10.3389/fgene.2019.01103
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