Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G1059R
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COL3A1

NM_000090.4:p.G1059R

Associated Papers

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.

Wei X et al.

Frontiers in Genetics, 2023

Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation.

Sakai K et al.

Internal Medicine (tokyo, Japan), 2019

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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."