Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.I250Fs
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COL3A1

NM_000090.4:p.I250Fs

Associated Papers

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Ritelli M et al.

Clinical Genetics, 2020

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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."