Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.A172S
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COL5A2

NM_000393.5:p.A172S

Associated Papers

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

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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."