Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D326G
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COMP

NM_000095.3:p.D326G

Associated Papers

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

Guo BB et al.

Biomed Research International, 2021

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

Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.

Yu WJ et al.

Molecular Medicine Reports, 2016

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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."