Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E320D
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MLH1

NM_000249.4:p.E320D

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Thompson BA et al.

Frontiers in Genetics, 2020

32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

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