KEGG   VARIANT: 132884v1
Entry
132884v1                      Variant                              
Name
EVC2 mutation
Gene
EVC2  EvC ciliary complex subunit 2 [KO:K19608]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607261
Network
nt06501  HH signaling
Disease
H00503  Ellis-van Creveld syndrome
H02158  Weyers acrofacial dysostosis
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
Reference
PMID:19876929
  Authors
Ruiz-Perez VL, Goodship JA
  Title
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
  Journal
Am J Med Genet C Semin Med Genet 151C:341-51 (2009)
DOI:10.1002/ajmg.c.30226
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