Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G699S
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COL3A1

NM_000090.4:p.G699S

Associated Papers

Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene.

Horino T et al.

Surgical Case Reports, 2023

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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."