Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.C292Y
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COMP

NM_000095.3:p.C292Y

Associated Papers

Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP.

Yin L et al.

Annals of Human Genetics, 2023

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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."