Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.Y283H
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CTSK

NM_000396.4:p.Y283H

Associated Papers

A First-Case Report of Pycnodysostosis in an Omani Boy.

Al-Araimi M et al.

Journal of Pediatric Genetics, 2022

A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report.

Kochar IPS et al.

Clinical Medicine Insights. Case Reports, 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."