Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.H79Y
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SMAD3

NM_005902.4:p.H79Y

Associated Papers

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

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

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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."