Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.E205*
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MSH2

NM_000251.3:p.E205*

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

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Bonfiglio F et al.

Ebiomedicine, 2023

36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

Some aspects of molecular diagnostics in Lynch syndrome.

Kurzawski G

Hereditary Cancer in Clinical Practice, 2006

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Kurzawski G et al.

Clinical Genetics, 2006

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

Kurzawski G et al.

Journal of Medical Genetics, 2002

Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.

Kurzawski G et al.

Journal of Biochemical and Biophysical Methods, 2002

Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.

Jakubowska A et al.

Human Mutation, 2001

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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."