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

Authors: Pilar Mur, Julen Viana-Errasti, Sandra García-Mulero, Lorena Magraner-Pardo, Inés G. Muñoz, Tirso Pons, Gabriel Capellá, Marta Pineda, Lidia Feliubadaló, Laura Valle

Source: Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)

Subject Terms: Polymerase proofreading-associated polyposis, PPAP, Polymerase epsilon, Polymerase delta, Proofreading deficiency, Mutational signatures, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/0d8eedbedf5a4275aa0193c67a801de8