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Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

BACKGROUND: Germline variants affecting the proofreading activity of polymerases epsilon and delta cause a hereditary cancer and adenomatous polyposis syndrome characterized by tumors with a high mutational burden and a specific mutational spectrum. In addition to the implementation of multiple piec...

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Detalles Bibliográficos
Autores principales:	Mur, Pilar, Viana-Errasti, Julen, García-Mulero, Sandra, Magraner-Pardo, Lorena, Muñoz, Inés G., Pons, Tirso, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lidia, Valle, Laura
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580551/ https://www.ncbi.nlm.nih.gov/pubmed/37848928 http://dx.doi.org/10.1186/s13073-023-01234-y

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