Varaico: Literature-Extracted Genetic Variants

Gene:CAP2
Variant:p.R293W
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CAP2

NM_006366.3:p.R293W

Associated Papers

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.

Bouchoucha S et al.

Frontiers in Pediatrics, 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."