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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Targeted next-generation sequencing in family with an occurrence of neurodevelopmental disorders and epilepsy

ABSTRACT: We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in two boys with neurodevelopmental disorders and epilepsy and their unaffected parents

INSTRUMENT(S): NextSeq 500

ORGANISM(S): Homo sapiens

SUBMITTER: Marketa Wayhelova

PROVIDER: E-MTAB-8131 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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