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Germline deletion of chromosome 2p16-21 associated with Lynch syndrome

We identified a Japanese patient with Lynch syndrome with a novel large germline deletion of chromosome 2p16-21, including the EPCAM, MSH2, and KCNK12 genes. The proband was a 46-year-old man with ascending colon cancer. The clinical significance of germline KCNK12 gene deletion, which encodes one o...

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Detalles Bibliográficos
Autores principales:	Natsume, Soichiro, Yamaguchi, Tatsuro, Eguchi, Hidetaka, Okazaki, Yasushi, Horiguchi, Shin-ichiro, Ishida, Hideyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8134480/ https://www.ncbi.nlm.nih.gov/pubmed/34012011 http://dx.doi.org/10.1038/s41439-021-00152-y

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