Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.E318K
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MSH6

NM_000179.3:p.E318K

Associated Papers

Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil.

Dos Santos Luciano MC et al.

Clinical Genetics, 2025

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.

Bernstein-Molho R et al.

Breast Cancer Research and Treatment, 2020

Genetic and immune profiling for potential therapeutic targets in adult human craniopharyngioma.

Kassab C et al.

Clinical Oncology and Research, 2019

Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma.

Betti M et al.

Cancer Letters, 2017

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Pritzlaff M et al.

Breast Cancer Research and Treatment, 2017

28008555 (PubMed )
Supplement: 10549_2016_4085_MOESM1_ESM.docx

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › MSH6.Ion

Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing.

Mu W et al.

The Journal of Molecular Diagnostics : Jmd, 2016

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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."