Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.D48Y
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PMS2

NM_000535.7:p.D48Y

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.

Zahary MN et al.

World Journal of Gastroenterology, 2012

Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency.

Hill KA et al.

Mutation Research, 2004

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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."