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Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity

Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift mutations that clearly abrogat...

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Detalles Bibliográficos
Autores principales:	Houlleberghs, Hellen, Goverde, Anne, Lusseveld, Jarnick, Dekker, Marleen, Bruno, Marco J., Menko, Fred H., Mensenkamp, Arjen R., Spaander, Manon C. W., Wagner, Anja, Hofstra, Robert M. W., te Riele, Hein
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460888/ https://www.ncbi.nlm.nih.gov/pubmed/28531214 http://dx.doi.org/10.1371/journal.pgen.1006765

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