Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A
[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].
Yu C et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2020
Structural Capacitance in Protein Evolution and Human Diseases.
Li C et al.
Journal of Molecular Biology, 2018
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Preeprem T et al.
Biodata Mining, 2013
24365473 (PubMed )
Supplement: 1756-0381-6-24-S2.xlsx › Additional_Table_5
Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.
Cho MH et al.
American Journal of Respiratory Cell and Molecular Biology, 2009
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
Tassabehji M et al.
Methods in Molecular Medicine, 2006
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
Urbán Z et al.
Human Genetics, 2001
Elastin: mutational spectrum in supravalvular aortic stenosis.
Metcalfe K et al.
European Journal of Human Genetics : Ejhg, 2000
[Supravalvular aortic stenosis. Autosomal dominant form of congenital cardiopathy].
Pierquin G et al.
Journal De Genetique Humaine, 1988
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