Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.G129V
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COL5A1

NM_000093.5:p.G129V

Associated Papers

Classical Ehlers-Danlos syndrome with cranio-cervical instability in an infant due to a novel COL5A1 gene mutation.

Thomas Paulraj H et al.

Bmj Case Reports, 2024

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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."