Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.C139S
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CTSK

NM_000396.4:p.C139S

Associated Papers

Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.

Lu PN et al.

Jci Insight, 2020

Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T.

Roy S et al.

The Febs Journal, 2018

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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."