Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.G1495S
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COL5A1

NM_000093.5:p.G1495S

Associated Papers

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.

Junkiert-Czarnecka A et al.

Current Issues in Molecular Biology, 2022

Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review.

Gong Z et al.

Clinical and Experimental Dermatology, 2021

New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases.

Junkiert-Czarnecka A et al.

Postepy Dermatologii I Alergologii, 2019

[Joint hypermobility, skin hyper-elasticity, connective tissue fragility: classical symptoms of Ehlers-Danlos syndrome].

Häggblom L et al.

Lakartidningen, 1995

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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."