Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.E561_E569del9
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MSH2

NM_000251.3:p.E561_E569del9

Associated Papers

Real-World Evaluation of Microsatellite Instability Detection via Targeted NGS Panels in Routine Molecular Diagnostics.

Škerl P et al.

International Journal of Molecular Sciences, 2025

40806271 (PubMed )
Supplement: ijms-26-07138-s001.zip › Table_S2-MMR_genes_alterations.xlsx › MSI-H_and_MMR_alterations

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

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
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