Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G603D
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COL3A1

NM_000090.4:p.G603D

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

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Ritelli M et al.

Clinical Genetics, 2020

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome.

Shalhub S et al.

American Journal of Medical Genetics. Part A, 2019

Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.

Park MA et al.

Medicine, 2017

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.

Drera B et al.

Journal of Dermatological Science, 2011

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.

Shimaoka Y et al.

The British Journal of Dermatology, 2010

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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."