Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G598S
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COL1A2

NM_000089.4:p.G598S

Associated Papers

Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.

Nuytinck L et al.

Human Genetics, 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."