Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.G1186Splc
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MSH6

NM_000179.3:p.G1186Splc

Associated Papers

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant.

Moreno DA et al.

Animal Models and Experimental Medicine, 2025

Case Report: A patient with lynch syndrome with vaginal endometriosis-associated malignancy and synchronous colonic tubulovillous adenoma.

Kuang T et al.

Frontiers in Medicine, 2025

Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence.

Pasquinelli E et al.

Computational and Structural Biotechnology Journal, 2025

41282417 (PubMed )
Supplement: mmc1.pdf

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Rofes P et al.

Cancer Medicine, 2024

38558366 (PubMed )
Supplement: CAM4-13-e7041-s004.xlsx › Table_S3_VAF_5_
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