Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G805D
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COL1A2

NM_000089.4:p.G805D

Associated Papers

Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

Lund AM et al.

European Journal of Human Genetics : Ejhg, 1996

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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."