Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.C39R
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MLH1

NM_000249.4:p.C39R

Associated Papers

A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.

Rath A et al.

Human Mutation, 2022

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A et al.

Human Mutation, 2015

26333163 (PubMed )
Supplement: supplement_1.pdf

An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1.

Hutter P et al.

Journal of Medical Genetics, 2002

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