Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.G881delins
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MSH6

NM_000179.3:p.G881delins

Associated Papers

Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.

Mondschein R et al.

Cancers, 2022

35892882 (PubMed )
Supplement: cancers-14-03623-s001.zip › cancers-1805198-supplementary.pdf

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.

Lincoln SE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34007000 (PubMed )
Supplement: 41436_2021_1187_MOESM2_ESM.xlsx › Table_S1

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

34445333 (PubMed )
Supplement: ijms-22-08627-s001.zip › ijms-1268836-supplementary.xlsx › Combined_minus_RNA

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Kansikas M et al.

Human Mutation, 2011

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

Hampel H et al.

Cancer Research, 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."