Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.E272*
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MSH6

NM_000179.3:p.E272*

Associated Papers

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

Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.

Elze L et al.

Journal of the National Cancer Institute, 2023

37018159 (PubMed )
Supplement: djad063_supplementary_data.zip › djad063_Supplementary_Data › JNCI-22-1411_SupplementaryTable1_revised.xlsx › eTable_1

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

Overbeek LI et al.

British Journal of Cancer, 2007

Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

Kets CM et al.

British Journal of Cancer, 2006

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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."