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Article

Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients.

Clinical laboratory - 1 Jun 2022

Gun-Bilgic Dilek, Polat Muzaffer

Abstract excerpt

BACKGROUND: Epilepsy is a neurological disease that is mostly caused by genetic factors. The genetic diagnosis of patients in a pediatric epilepsy cohort was provided. METHODS: After phenotypic characterization, a 48-gene Next Generation Sequencing panel was performed in 110 Turkish children with epilepsy. The variants were called and annotated using the QIAGEN Ingenuity® Variant Analysis software. RESULTS: Of...

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PMID: 35704740
DOI: 10.7754/Clin.Lab.2021.210939

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