Associated Papers
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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 › MSH6
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_
Combinatorial approach of in silico and in vitro evaluation of MLH1 variant associated with Lynch syndrome like metastatic colorectal cancer.
Saleem K et al.
Bioscience Reports, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.
Zhang Y et al.
Biomed Research International, 2018
A Genetic Incompatibility Accelerates Adaptation in Yeast.
Bui DT et al.
Plos Genetics, 2015
Genetic features of Lynch syndrome in the Israeli population.
Goldberg Y et al.
Clinical Genetics, 2015
Detection of epidermal growth factor receptor variations by partially denaturing HPLC.
Chin TM et al.
Clinical Chemistry, 2007
Distinct mechanisms lead to HPRT gene mutations in leukemic cells.
Lin YW et al.
Genes, Chromosomes & Cancer, 2004
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.
Caldes T et al.
International Journal of Cancer, 2002
A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.
Stella A et al.
Cancer Research, 2001
Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines.
Phear G et al.
Molecular and Cellular Biology, 1996
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