Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G343E
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COL1A2

NM_000089.4:p.G343E

Associated Papers

Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.

Coetzer KC et al.

European Journal of Human Genetics : Ejhg, 2024

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

Ward LM et al.

Human Mutation, 2001

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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."