Associated Papers
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.
Bouras A et al.
Human Molecular Genetics, 2024
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
34445333 (PubMed )
Supplement: ijms-22-08627-s001.zip › ijms-1268836-supplementary.xlsx › RNA_splicing
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
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
Sjursen W et al.
Molecular Genetics & Genomic Medicine, 2016
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