Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.E878_Q879Splc
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MSH2

NM_000251.3:p.E878_Q879Splc

Associated Papers

Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.

Pantaleo A et al.

Cancers, 2023

Whole-genome sequencing identified novel mutations in a Chinese family with lynch syndrome.

He W et al.

Frontiers in Oncology, 2023

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

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome.

Cariola F et al.

The International Journal of Biological Markers, 2018

Low-grade serous carcinomas of the ovary contain very few point mutations.

Jones S et al.

The Journal of Pathology, 2012

Genotype-phenotype correlations in hereditary familial retinoblastoma.

Taylor M et al.

Human Mutation, 2007

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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."