KEGG   VARIANT: 5818v1
Entry
5818v1                      Variant                                
Name
NECTIN1 mutation
Type
Loss of function
Gene
NECTIN1  nectin cell adhesion molecule 1 [KO:K06081]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600644
Network
nt06546  IgSF CAM signaling
Disease
H00516  Cleft lip and/or cleft palate
H02456  Ectodermal dysplasia
Reference
PMID:25913853
  Authors
Yoshida K, Hayashi R, Fujita H, Kubota M, Kondo M, Shimomura Y, Niizeki H
  Title
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
  Journal
J Dermatol 42:715-9 (2015)
DOI:10.1111/1346-8138.12882
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