Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.L595fs
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MSH6

NM_000179.3:p.L595fs

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

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

van der Schoot V et al.

European Journal of Human Genetics : Ejhg, 2022

34697415 (PubMed )
Supplement: 41431_2021_964_MOESM3_ESM.xlsx › Table_S1

Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.

Vos JR et al.

International Journal of Cancer, 2020

32510614 (PubMed )
Supplement: IJC-147-2150-s001.pdf

Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.

Leenen CH et al.

Gynecologic Oncology, 2012

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.

van Puijenbroek M et al.

Familial Cancer, 2007

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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."