Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.F142L
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CTSK

NM_000396.4:p.F142L

Associated Papers

Mechanisms of the anabolic effects of teriparatide on bone: insight from the treatment of a patient with pycnodysostosis.

Chavassieux P et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2008

High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

Schilling AF et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2007

Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.

Fujita Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

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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."