Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.N218fs
Back to variants list

SMAD3

NM_005902.4:p.N218fs

Associated Papers

Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants.

Beil A et al.

Bmc Medical Genomics, 2021

Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.

Wolford BN et al.

Circulation. Genomic and Precision Medicine, 2019

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Mariscalco G et al.

Journal of the American Heart Association, 2018

30371227 (PubMed )
Supplement: JAH3-7-e009302-s001.pdf

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.

Milewicz DM et al.

Trends in Cardiovascular Medicine, 2014

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.

Hilhorst-Hofstee Y et al.

Clinical Genetics, 2013

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

van de Laar IM et al.

Journal of Medical Genetics, 2012

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.

Regalado ES et al.

Circulation Research, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."