Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Y678*
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MSH2

NM_000251.3:p.Y678*

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

Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant.

Tomida A et al.

Human Genome Variation, 2022

Mismatch repair deficiency is rare in bone and soft tissue tumors.

Lam SW et al.

Histopathology, 2021

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

de Angelis de Carvalho N et al.

Cancers, 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."