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

被引：0
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作者：
Pilar Mur
Julen Viana-Errasti
Sandra García-Mulero
Lorena Magraner-Pardo
Inés G. Muñoz
Tirso Pons
Gabriel Capellá
Marta Pineda
Lidia Feliubadaló
Laura Valle
机构：
[1] Catalan Institute of Oncology,Hereditary Cancer Program
[2] IDIBELL,Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell)
[3] IDIBELL,Department of Health of Catalonia
[4] Centro de Investigación Biomédica en Red de Cáncer (CIBERONC),Unit of Biomarkers and Susceptibility, Oncology Data Analytics Program (ODAP)
[5] Catalan Cancer Plan,The CRUK Gene Function Laboratory and The Breast Cancer Now Toby Robins Research Centre
[6] Catalan Institute of Oncology,Protein Crystallography Unit, Structural Biology Program
[7] The Institute of Cancer Research (ICR),Department of Immunology and Oncology
[8] Spanish National Cancer Research Center (CNIO),undefined
[9] National Center for Biotechnology (CNB-CSIC),undefined
[10] Spanish National Research Council,undefined
来源：
Genome Medicine | / 15卷
关键词：
Polymerase proofreading-associated polyposis; PPAP; Polymerase epsilon; Polymerase delta; Proofreading deficiency; Mutational signatures; Variant classification; Hereditary cancer;
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