Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.A49T
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PMS2

NM_000535.7:p.A49T

Associated Papers

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.

Manjunath U et al.

Frontiers in Neuroscience, 2025

41262473 (PubMed )
Supplement: Table_1.XLSX › Sheet2

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

Germani A et al.

Journal of Clinical Medicine, 2020

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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."