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Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing

BACKGROUND: Hereditary genetic mutations causing predisposition to colorectal cancer are accountable for approximately 30% of all colorectal cancer cases. However, only a small fraction of these are high penetrant mutations occurring in DNA mismatch repair genes, causing one of several types of fami...

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Detalles Bibliográficos
Autores principales:	Singh, Ashish Kumar, Talseth-Palmer, Bente, Xavier, Alexandre, Scott, Rodney J., Drabløs, Finn, Sjursen, Wenche
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257304/ https://www.ncbi.nlm.nih.gov/pubmed/37296477 http://dx.doi.org/10.1186/s12920-023-01562-3

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