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Updated: Dec 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis

Beenish Azad1, Stephanie Efthymiou2, Tipu Sultan3

  • 1Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad 44000, Pakistan; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

Journal of the Neurological Sciences
|April 18, 2020
PubMed
Abstract

Keywords:
CLN5Exome sequencingNeuronal ceroid lipofuscinosis

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