Associated Papers
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
Landrith T et al.
Npj Precision Oncology, 2020
32133419 (PubMed )
Supplement: 41698_2020_109_MOESM1_ESM.pdf
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_1
Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome.
Ruiz JL et al.
International Journal of Colorectal Disease, 2014
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