Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.E99delFs
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MSH6

NM_001281492.2:p.E99delFs

Associated Papers

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

39546165 (PubMed )
Supplement: 10689_2024_432_MOESM1_ESM.xlsx › Sheet1

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

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Scott A et al.

Genome Biology, 2022

36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl

Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients.

Sugino K et al.

Scientific Reports, 2019

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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."