Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.Y519H
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PMS2

NM_000535.7:p.Y519H

Associated Papers

Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.

Yildiz S et al.

Frontiers in Oncology, 2023

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Kansikas M et al.

Human Mutation, 2011

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

Christensen LL et al.

Familial Cancer, 2009

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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."