KEGG   VARIANT: 374654v1
Entry
374654v1                      Variant                              
Name
KIF7 mutation
Gene
KIF7  kinesin family member 7 [KO:K18806]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611254
Network
nt06501  HH signaling
Disease
H00263  Acrocallosal syndrome
H00530  Joubert syndrome and related disorders
H01265  Hydrolethalus 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
LinkDB

DBGET integrated database retrieval system