Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G318D
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COL3A1

NM_000090.4:p.G318D

Associated Papers

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Yagyu T et al.

Journal of the American Heart Association, 2023

37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf

Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.

Makrygiannis G et al.

European Journal of Medical Genetics, 2015

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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."