Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.A233G
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COL5A1

NM_000093.5:p.A233G

Associated Papers

Identification of a Novel Frameshift Variant of ARR3 Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity.

Xiao X et al.

Journal of Clinical Medicine, 2023

Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1.

Hu Q et al.

Frontiers in Genetics, 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."