Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.P554_G555Splc
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COL3A1

NM_000090.4:p.P554_G555Splc

Associated Papers

Challenges in the Management of Patients with Vascular Ehlers-Danlos Syndrome: Lessons from three Clinical Cases.

Alayasa L et al.

European Journal of Case Reports in Internal Medicine, 2025

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.

Bowen JM et al.

European Journal of Human Genetics : Ejhg, 2023

36977837 (PubMed )
Supplement: 41431_2023_1343_MOESM1_ESM.pdf

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

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

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

Frank M et al.

European Journal of Human Genetics : Ejhg, 2015

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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."