Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G255E
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COL3A1

NM_000090.4:p.G255E

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

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers-Danlos based on electron microscopy.

Ishikawa S et al.

Frontiers in Genetics, 2023

37655064 (PubMed )
Supplement: DataSheet2.xlsx › Patients__variants_in_COL3A1_

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.

Shalhub S et al.

Journal of Vascular Surgery, 2019

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Zoppi N et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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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."