Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.D370Y
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CDH1

NM_004360.5:p.D370Y

Associated Papers

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Selvanathan A et al.

Genes, 2020

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Figueiredo J et al.

Journal of Medical Genetics, 2019

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A et al.

European Journal of Human Genetics : Ejhg, 2018

Roles for E-cadherin cell surface regulation in cancer.

Petrova YI et al.

Molecular Biology of the Cell, 2016

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

Brito LA et al.

Human Mutation, 2015

Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

Sanches JM et al.

European Journal of Human Genetics : Ejhg, 2015

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

Vogelaar IP et al.

Human Molecular Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."