Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.D250G
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CTSK

NM_000396.4:p.D250G

Associated Papers

Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach.

Kannan P et al.

Journal of Biomolecular Structure & Dynamics, 2024

37255004 (PubMed )
Supplement: supplement_1.docx

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

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Bizaoui V et al.

Clinical Genetics, 2019

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

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.

Xue Y et al.

Journal of Dental Research, 2015

Current research on pycnodysostosis.

Turan S

Intractable & Rare Diseases Research, 2014

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

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.

Donnarumma M et al.

Human Mutation, 2007

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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."