Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.T716delFs
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MSH6

NM_000179.3:p.T716delFs

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

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

González-Acosta M et al.

Journal of Medical Genetics, 2020

31494577 (PubMed )
Supplement: jmedgenet-2019-106272supp001.xlsx › Suppl_Table_S1

Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Biliary Tract Cancers Associated with Lynch Syndrome.

Cloyd JM et al.

Journal of Gastrointestinal Cancer, 2018

Response to Mammalian Target of Rapamycin-Based Therapy and Incidental Finding of Lynch Syndrome in a Patient With Solid Pseudopapillary Neoplasm of the Pancreas With AKT1_E17K Mutation.

Cuglievan B et al.

Jco Precision Oncology, 2018

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.

Pérez-Carbonell L et al.

Gut, 2012

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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."