Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G591D
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COL3A1

NM_000090.4:p.G591D

Associated Papers

Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.

Stephens SB et al.

Journal of the American Heart Association, 2023

37776192 (PubMed )
Supplement: JAH3-12-e029518-s001.pdf

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.

Shalhub S et al.

Journal of Vascular Surgery, 2014

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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."