Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.C319G
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POLD1

NM_002691.4:p.C319G

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

The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.

Palles C et al.

Familial Cancer, 2022

33948826 (PubMed )
Supplement: 10689_2021_256_MOESM1_ESM.docx

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.

Elsayed FA et al.

Molecular Genetics & Genomic Medicine, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."