Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.K1013_K1014delFs
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MSH6

NM_000179.3:p.K1013_K1014delFs

Associated Papers

Novel microsatellite instability test of sebaceous tumours to facilitate low-cost universal screening for Lynch syndrome.

Gallon R et al.

Clinical and Experimental Dermatology, 2025

39847610 (PubMed )
Supplement: llaf005_supplementary_data.zip › Supplementary_Appendices.pdf

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Assessing the genomic feature of Chinese patients with ampullary adenocarcinoma: potential therapeutic targets.

Dong Z et al.

Bmc Cancer, 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

Interval between the First Cancer and the Genetic Diagnosis in Lynch Syndrome Probands.

Yamashita K et al.

Internal Medicine (tokyo, Japan), 2021

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 2016

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf
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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."