Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.G291Splc
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SMAD3

NM_005902.4:p.G291Splc

Associated Papers

Role of non-coding variants in cardiovascular disease.

Heshmatzad K et al.

Journal of Cellular and Molecular Medicine, 2023

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.

Verstraeten A et al.

Circulation, 2020

Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports.

Keravnou A et al.

Molecular Genetics & Genomic Medicine, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."