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Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder

Autism is a complex disease with genetic predisposition factors. Real factors for treatment and early diagnosis are yet to be defined. This study integrated transcriptome and exome genotyping for identifying functional variants associated with autism spectrum disorder and their impact on gene expres...

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Principais autores: Noor B. Almandil, Abdulla AlSulaiman, Sumayh A. Aldakeel, Deem N. Alkuroud, Halah Egal Aljofi, Safah Alzahrani, Aishah Al-mana, Asma A. Alfuraih, Majed Alabdali, Fahd A. Alkhamis, Sayed AbdulAzeez, J. Francis Borgio
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2022-01-01
Colecção:Pharmaceuticals
Assuntos:
autism spectrum disorder
neurodevelopmental disorder
SNPs
regulatory variants
gene expression
RNA sequencing
Acesso em linha:https://www.mdpi.com/1424-8247/15/2/158
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