Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.I335V
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POLD1

NM_002691.4:p.I335V

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

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.

Nicolas E et al.

Gene, 2016

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

Jansen AM et al.

European Journal of Human Genetics : Ejhg, 2016

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