Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E336_S337Splc
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CDH1

NM_004360.5:p.E336_S337Splc

Associated Papers

RNA-seq Splicing Profile of the CDH1 Gene and Its Impact on the Clinical Pathogenicity Classification of CDH1 Variants: A Description of Alternative and Pathogenic Splicing Patterns.

Sebai M et al.

Cancers, 2025

Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.

Tatunay K et al.

Bmj Open, 2025

Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.

Massari G et al.

Cancers, 2021

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

Selvanathan A et al.

Genes, 2020

32260281 (PubMed )
Supplement: genes-11-00391-s001.zip › genes-715863-supplementary.xlsx › Final_Variant_List

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

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S et al.

Jama Oncology, 2015

CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.

Benusiglio PR et al.

Journal of Medical 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."