Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.A103fs
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MLH1

NM_000249.4:p.A103fs

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

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Mäki-Nevala S et al.

Ebiomedicine, 2019

30578081 (PubMed )
Supplement: mmc1.pdf

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

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

DNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas.

Valo S et al.

Clinical Epigenetics, 2015

26203307 (PubMed )
Supplement: 13148_2015_102_MOESM10_ESM.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."