KEGG   VARIANT: 999v4
Entry
999v4                      Variant                                 
Name
CDH1 mutation
Type
Loss of function
Gene
CDH1  cadherin 1 [KO:K05689]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 192090
Network
nt06548  Integrin signaling
Disease
H02474  Blepharocheilodontic syndrome
Reference
PMID:30661051
  Authors
Figueiredo J, Melo S, Carneiro P, Moreira AM, Fernandes MS, Ribeiro AS, Guilford P, Paredes J, Seruca R
  Title
Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
  Journal
J Med Genet 56:199-208 (2019)
DOI:10.1136/jmedgenet-2018-105807
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