Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S295Splc
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MLH1

NM_000249.4:p.S295Splc

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

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

Distinct Molecular Landscape of Epstein-Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic Sequencing.

Chau SL et al.

Cancers, 2020

32726920 (PubMed )
Supplement: cancers-12-02065-s001.zip › cancers-870865-supplementary_V2 › Supplementary_Tables_S1-S10.xlsx › Table_S7
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