Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.G680D
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PMS2

NM_000535.7:p.G680D

Associated Papers

Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.

Rayner E et al.

Human Mutation, 2022

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Penkert J et al.

Breast Cancer Research : Bcr, 2018

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.

Zhang J et al.

Oncotarget, 2017

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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."