Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G252fs
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COL3A1

NM_000090.4:p.G252fs

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
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