Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S577_E578Splc
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MLH1

NM_000249.4:p.S577_E578Splc

Associated Papers

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Supplementary_Figure_1

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

Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies.

Sarode VR et al.

Archives of Pathology & Laboratory Medicine, 2019

Clinical Utility of Prospective Molecular Characterization in Advanced Endometrial Cancer.

Soumerai TE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

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