Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.D80delFs
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CTSK

NM_000396.4:p.D80delFs

Associated Papers

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.

Xue Y et al.

Orphanet Journal of Rare Diseases, 2011

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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."