Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.H264R
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MLH1

NM_000249.4:p.H264R

Associated Papers

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

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

Soukarieh O et al.

Plos Genetics, 2016

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

Takahashi M et al.

Cancer Research, 2007

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