Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.E448K
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COL3A1

NM_000090.4:p.E448K

Associated Papers

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.

Wei X et al.

Frontiers in Genetics, 2023

Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.

Damseh N et al.

American Journal of Medical Genetics. Part A, 2022

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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."