Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E227fs
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MLH1

NM_000249.4:p.E227fs

Associated Papers

Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family.

Yang C et al.

Familial Cancer, 2020

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_1

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

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