Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.K40_V41Splc
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CTSK

NM_000396.4:p.K40_V41Splc

Associated Papers

Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.

Spencer C et al.

Frontiers in Oral Health, 2023

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

Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.

Shambhavi A et al.

Journal of Pediatric Genetics, 2018

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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."