Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.F142fs
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CTSK

NM_000396.4:p.F142fs

Associated Papers

Latent metabolic bone disease, skeletal dysplasia and other conditions related to low bone formation among 38 patients with subtrochanteric femoral fractures: a retrospective observational study.

Kimura S et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2024

38951164 (PubMed )
Supplement: 198_2024_7168_MOESM2_ESM.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 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."