Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.G221V
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COL1A1

NM_000088.4:p.G221V

Associated Papers

Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population.

Bayanova M et al.

Scientific Reports, 2025

Analysis of miRNAs in Osteogenesis imperfecta Caused by Mutations in COL1A1 and COL1A2: Insights into Molecular Mechanisms and Potential Therapeutic Targets.

Botor M et al.

Pharmaceuticals (basel, Switzerland), 2023

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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."