CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site

Disease-causing germline mutations in CDH1 cause Hereditary Diffuse Gastric Cancer (HDGC). For patients who meet the HDGC screening criteria, the identification and classification of the sequence variants found in CDH1 are critical for risk management of patients. In this report, we describe a germl...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Yelskaya, Zarina, Bacares, Ruben, Salo-Mullen, Erin, Somar, Joshua, Lehrich, Deborah A., Fasaye, Grace-Ann, Coit, Daniel G., Tang, Laura H., Stadler, Zsofia K., Zhang, Liying
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5120775/
https://ncbi.nlm.nih.gov/pubmed/27880784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0165654
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