Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.S554Splc
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MSH2

NM_000251.3:p.S554Splc

Associated Papers

Medulloblastoma associated with Lynch syndrome: a case report of germline MLH1 variant and tumor molecular characterization.

Zheng H et al.

Investigational New Drugs, 2025

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

A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome.

Li J et al.

Frontiers in Oncology, 2020

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