Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.G511V
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COL5A1

NM_000093.5:p.G511V

Associated Papers

Arterial complications in classical Ehlers-Danlos syndrome: a case series.

Angwin C et al.

Journal of Medical Genetics, 2020

Ehlers-Danlos syndrome, classical type.

Bowen JM et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017

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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."