Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G1170R
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COL2A1

NM_001844.5:p.G1170R

Associated Papers

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Akahira-Azuma M et al.

Human Genome Variation, 2022

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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."