Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.D133G
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MSH2

NM_000251.3:p.D133G

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2

An unusual case of familial adenomatous polyposis with very early symptom occurrence.

Ponz de Leon M et al.

Familial Cancer, 2014

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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."