Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.V474A
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POLE

NM_006231.4:p.V474A

Associated Papers

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

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.

Bellido F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

26133394 (PubMed )
Supplement: gim201575x1.doc

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."