Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G252D
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COL3A1

NM_000090.4:p.G252D

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

Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.

Yamaguchi T et al.

American Journal of Medical Genetics. Part A, 2023

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_
Select a paper to view details
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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."