Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G1050V
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COL3A1

NM_000090.4:p.G1050V

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

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.

Palmeri S et al.

Clinical Genetics, 2003

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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."