Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing

BACKGROUND: Neurogenetic disorders (NGDs) are complex Mendelian disorders that affect the neurological system. A molecular diagnosis will provide more information about pathophysiology, prognosis, and therapy, including future genetic therapy options. Whole-Exome Sequencing (WES) can rapidly discove...

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Detalles Bibliográficos
Autores principales: Triono, Agung, Iskandar, Kristy, Hadiyanto, Marissa Leviani, Nugrahanto, Andika Priamas, Diantika, Kania, Wijayanti, Veronica Wulan, Herini, Elisabeth Siti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10599538/
https://www.ncbi.nlm.nih.gov/pubmed/37878632
http://dx.doi.org/10.1371/journal.pone.0293113

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