Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.M1I
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CTSK

NM_000396.4:p.M1I

Associated Papers

Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis.

Ünsal Y et al.

Cureus, 2023

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

Al-Araimi M et al.

Journal of Pediatric Genetics, 2022

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.

Araujo TF et al.

European Journal of Medical Research, 2016

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.

Arman A et al.

Orphanet Journal of Rare Diseases, 2014

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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."