KEGG   VARIANT: 51684v1
Entry
51684v1                      Variant                               
Name
SUFU mutation
Gene
SUFU  SUFU negative regulator of hedgehog signaling [KO:K06229]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607035
Network
nt06501  HH signaling
Disease
H00530  Joubert syndrome and related disorders
H00895  Basal cell nevus syndrome
Reference
  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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