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
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
van der Klift HM et al.
Molecular Genetics & Genomic Medicine, 2015
26247049 (PubMed )
Supplement: mgg30003-0327-sd1.docx
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
Johannesma PC et al.
Clinical Genetics, 2011
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