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Article

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Genes - 28 Mar 2023

Alvarez-Mora María Isabel, Rodríguez-Revenga Laia, Jodar Meritxell, Potrony Miriam, Sanchez Aurora, Badenas Celia, Oriola Josep, Villanueva-Cañas José Luis, Muñoz Esteban, Valldeoriola Francesc, Cámara Ana, Compta Yaroslau, Carreño Mar, Martí María Jose, Sánchez-Valle Raquel, Madrigal Irene

Abstract excerpt

Neurological disorders (ND) are diseases that affect the brain and the central and autonomic nervous systems, such as neurodevelopmental disorders, cerebellar ataxias, Parkinson's disease, or epilepsies. Nowadays, recommendations of the American College of Medical Genetics and Genomics strongly recommend applying next generation sequencing (NGS) as a first-line test in patients with these disorders. Whole exome...

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PMID: 37107571
DOI: 10.3390/genes14040813
PMCID: PMC10137364

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