Varaico: Literature-Extracted Genetic Variants

Gene:CDH17
Variant:p.P30T
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CDH17

NM_004063.4:p.P30T

Associated Papers

Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.

Massari G et al.

Cancers, 2021

Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.

Norero E et al.

International Journal of Molecular Sciences, 2019

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Figueiredo J et al.

Journal of Medical Genetics, 2019

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.

Corso G et al.

Journal of Medical Genetics, 2018

CDH1 germline mutations and hereditary lobular breast cancer.

Corso G et al.

Familial Cancer, 2016

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

Vogelaar IP et al.

Human Molecular Genetics, 2013

E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.

Simões-Correia J et al.

Plos One, 2012

Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.

Schrader KA et al.

Journal of Medical Genetics, 2011

Epigenetic and genetic alterations of APC and CDH1 genes in lobular breast cancer: relationships with abnormal E-cadherin and catenin expression and microsatellite instability.

Sarrió D et al.

International Journal of Cancer, 2003

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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."