Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.S702*
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MSH6

NM_000179.3:p.S702*

Associated Papers

Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk.

Rivero-García P et al.

Heliyon, 2024

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-escaping_mutations

Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome.

Barrow E et al.

Histopathology, 2010

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

Plaschke J et al.

Human Mutation, 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."