Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Y299H
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MSH2

NM_000251.3:p.Y299H

Associated Papers

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Scott A et al.

Genome Biology, 2022

36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Haraldsdottir S et al.

Gastroenterology, 2014

Molecular specificity, convergence and constraint shape adaptive evolution in nutrient-poor environments.

Hong J et al.

Plos Genetics, 2014

24415948 (PubMed )
Supplement: pgen.1004041.s012.xlsx › Table_S1._mutations_in_clones
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