Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
Preprint in medRxiv (May 2024)
The most recent citing publications are shown below. View all 20 publications that cite this research output on Dimensions.
All exons are not created equal—exon vulnerability determines the effect of exonic mutations on splicing
Article in Nucleic Acids Research (February 2024)
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria
Article in Human Molecular Genetics (February 2024)