Associated Papers
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
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
26333163 (PubMed )
Supplement: supplement_1.pdf
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ et al.
Human Mutation, 2015
Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution.
Webb EA et al.
Human Genomics, 2011
An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1.
Hutter P et al.
Journal of Medical Genetics, 2002
Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase.
Guarné A et al.
The Embo Journal, 2001
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
Ellison AR et al.
Human Molecular Genetics, 2001
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