Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G327D
Back to variants list

COL3A1

NM_000090.4:p.G327D

Associated Papers

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Demirdas S et al.

Circulation. Genomic and Precision Medicine, 2024

38623759 (PubMed )
Supplement: hcg-17-e003978-s001.pdf

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.

Baas AF et al.

American Journal of Medical Genetics. Part A, 2017

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Campens L et al.

Orphanet Journal of Rare Diseases, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."