Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G5R
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COL2A1

NM_001844.5:p.G5R

Associated Papers

A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.

Lund A et al.

Clinical Genetics, 2008

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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."