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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2016
Pynciau:
Research Article
Mynediad Ar-lein: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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