Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G1050D
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COL3A1

NM_000090.4:p.G1050D

Associated Papers

Hematomas after coughing: a case description of vascular Ehlers-Danlos syndrome.

Guo T et al.

Quantitative Imaging in Medicine and Surgery, 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

Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.

Redman MG et al.

Ultrastructural Pathology, 2021

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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."