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The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders

Pediatric neurological disorders have a wide spectrum of clinical presentations and can be challenging to diagnose. Whole exome sequencing (WES) is increasingly becoming an integral diagnostic tool in medicine. It is cost-effective and has high diagnostic yield, especially in consanguineous populati...

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Detalles Bibliográficos
Autor principal: Muthaffar, OY
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8009565/
https://www.ncbi.nlm.nih.gov/pubmed/33816068
http://dx.doi.org/10.2478/bjmg-2020-0028