Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S556Splc
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MLH1

NM_000249.4:p.S556Splc

Associated Papers

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 › MLH1

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

Roht L et al.

Cancers, 2023

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.

Roht L et al.

Frontiers in Genetics, 2022

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

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