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

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

<h4>Background</h4>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)...

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Bibliographic Details
Main Authors: Agung Triono, Kristy Iskandar, Marissa Leviani Hadiyanto, Andika Priamas Nugrahanto, Kania Diantika, Veronica Wulan Wijayanti, Elisabeth Siti Herini
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2023-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0293113&type=printable

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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0293113&type=printable

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