Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.R193W
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CTSK

NM_000396.4:p.R193W

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

A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report.

Kochar IPS et al.

Clinical Medicine Insights. Case Reports, 2019

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