Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf
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
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Zhurayev R et al.
Genetics Research, 2016
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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