Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.Y1378*
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COL3A1

NM_000090.4:p.Y1378*

Associated Papers

Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort.

Adham S et al.

Frontiers in Cardiovascular Medicine, 2022

36262204 (PubMed )
Supplement: Table_1.XLSX › Feuil1

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Legrand A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."