Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D469G
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COMP

NM_000095.3:p.D469G

Associated Papers

Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.

Ansari H et al.

The Journal of Gene Medicine, 2019

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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."