Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G249D
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COL3A1

NM_000090.4:p.G249D

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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
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