Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.I494S
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POLD1

NM_002691.4:p.I494S

Associated Papers

Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants.

Folletet A et al.

Frontiers in Oncology, 2025

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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."