Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D472N
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COMP

NM_000095.3:p.D472N

Associated Papers

Transgenic mice expressing D469Delta mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations.

Schmitz M et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2008

Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis.

Hashimoto Y et al.

The American Journal of Pathology, 2003

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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."