Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.S252N
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CTSK

NM_000396.4:p.S252N

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

Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.

Kim SJ et al.

Frontiers in Genetics, 2021

A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.

Song HK et al.

Medicine, 2017

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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."