Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.L380*
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MSH2

NM_000251.3:p.L380*

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

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

Gene mutation analysis of oral submucous fibrosis cancerization in Hainan Island.

Li B et al.

Peerj, 2023

38050610 (PubMed )
Supplement: peerj-11-16392-s001.zip › Raw_data › sup-0003-tables3.xlsx › sheet1

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
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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."