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Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders

OBJECTIVE: Inborn errors of metabolism are complex disorders with huge variability in clinical manifestations. Decreasing cost of whole exome sequencing (WES) in recent years, made it affordable. Therefore, we witnessed an increase in using WES in diagnosis of genetic diseases, including inherited m...

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Detalhes bibliográficos
Publicado no:Iran J Child Neurol
Main Authors: SHAKIBA, Marjan, KERAMATIPOUR, Mohammad
Formato: Artigo
Idioma:Inglês
Publicado em: Shahid Beheshti University of Medical Sciences 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5760669/
https://ncbi.nlm.nih.gov/pubmed/29379558
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