Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.W2*
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CTSK

NM_000396.4:p.W2*

Associated Papers

Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.

Alsagheir A et al.

Frontiers in Endocrinology, 2025

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.

Mushiba AM et al.

American Journal of Medical Genetics. Part A, 2021

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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."