Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G252R
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COL3A1

NM_000090.4:p.G252R

Associated Papers

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Adham S et al.

Orphanet Journal of Rare Diseases, 2018

MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.

Kerwin W et al.

The International Journal of Cardiovascular Imaging, 2008

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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."