Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G606D
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COL2A1

NM_001844.5:p.G606D

Associated Papers

Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.

Güneş N et al.

Molecular Syndromology, 2018

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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."