Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G319V
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COL1A2

NM_000089.4:p.G319V

Associated Papers

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

Mottes M et al.

Human Mutation, 1998

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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."