Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.I363I
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POLD1

NM_002691.4:p.I363I

Associated Papers

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Weber CAM et al.

Acta Neuropathologica Communications, 2023

37990341 (PubMed )
Supplement: 40478_2023_1689_MOESM1_ESM.pdf

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

Palles C et al.

Familial Cancer, 2022

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

Buchanan DD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29120461 (PubMed )
Supplement: NIHMS909759-supplement-Supplementary___Appendix__online_only_material__etc__.docx

A panoply of errors: polymerase proofreading domain mutations in cancer.

Rayner E et al.

Nature Reviews. Cancer, 2016

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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."