Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.G767V
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COL1A1

NM_000088.4:p.G767V

Associated Papers

A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature.

Lu Y et al.

Ajp Reports, 2024

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.

Yang K et al.

Genes, 2022

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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."