Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G189S
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COL3A1

NM_000090.4:p.G189S

Associated Papers

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.

Omar R et al.

Cell Death Discovery, 2025

Integrated analysis of canine soft tissue sarcomas identifies recurrent mutations in TP53, KMT genes and PDGFB fusions.

Das S et al.

Scientific Reports, 2023

37369741 (PubMed )
Supplement: 41598_2023_37266_MOESM2_ESM.xlsx › Table_S5

Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.

Angwin C et al.

The British Journal of Dermatology, 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."