Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.D48V
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PMS2

NM_000535.7:p.D48V

Associated Papers

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

Rayner E et al.

Human Mutation, 2022

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Elfatih A et al.

Human Mutation, 2021

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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."