Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.E604fs
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MSH6

NM_000179.3:p.E604fs

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-S_with_MMR_alterations

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.

Gallon R et al.

Npj Precision Oncology, 2024

38789506 (PubMed )
Supplement: 41698_2024_603_MOESM1_ESM.pdf

New facets of antibody deficiencies.

Liadaki K et al.

Current Opinion in Immunology, 2013

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