Associated Papers
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
37848928 (PubMed )
Supplement: 13073_2023_1234_MOESM3_ESM.xlsx › Table_S3
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A et al.
Human Mutation, 2022
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S et al.
Journal of Medical Genetics, 2021
Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.
Galati MA et al.
Cancer Research, 2020
Targeted sequencing with a customized panel to assess histological typing in endometrial carcinoma.
Cuevas D et al.
Virchows Archiv : an International Journal of Pathology, 2019
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