Associated Papers
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function.
Reyes GX et al.
Communications Biology, 2020
Identification of Novel Pathogenic Sequence Variants of the Mismatch Repair Genes During Screening for Lynch Syndrome in a Single Centre of Eastern Hungary.
Kóder G et al.
Journal of Gastrointestinal Cancer, 2020
Correction: Identification of Novel Pathogenic Sequence Variants of the Mismatch Repair Genes During Screening for Lynch Syndrome in a Single Centre of Eastern Hungary.
Kóder G et al.
Journal of Gastrointestinal Cancer, 2020
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations.
Tanyi M et al.
European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology, 2014
Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families.
Tanyi M et al.
Familial Cancer, 2012
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K et al.
Familial Cancer, 2011
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