Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.L556delFs
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MSH2

NM_000251.3:p.L556delFs

Associated Papers

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

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_mutations

Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.

Wen H et al.

Jama Network Open, 2023

37523182 (PubMed )
Supplement: jamanetwopen-e2326437-s001.pdf

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

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Cruz-Correa M et al.

Hereditary Cancer in Clinical Practice, 2017

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

Carneiro da Silva F et al.

Plos One, 2015

Mutation spectrum in South American Lynch syndrome families.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2013

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

Valentin MD et al.

Familial Cancer, 2011

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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."