Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G447D
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COL3A1

NM_000090.4:p.G447D

Associated Papers

Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome.

Manhas J et al.

Frontiers in Cardiovascular Medicine, 2022

A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease.

Jones KA et al.

Annals of the Royal College of Surgeons of England, 2015

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