Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.A426T
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POLE

NM_006231.4:p.A426T

Associated Papers

High prevalence of "non-pathogenic" POLE mutation with poor prognosis in a cohort of endometrial cancer from South India.

Kuriakose S et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2024

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

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Palles C et al.

Nature Genetics, 2013

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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."