Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
Wang WJ et al.
Journal of Molecular Medicine (berlin, Germany), 2013
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).
Maleszewski JJ et al.
The American Journal of Surgical Pathology, 2009
Molecular genetic characterization of sudden deaths due to thoracic aortic dissection or rupture.
Saxton S et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0
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