Identification of primary copy number variations reveal enrichment of Calcium, and MAPK pathways sensitizing secondary sites for autism

Background Autism is a neurodevelopmental condition with genetic heterogeneity. It is characterized by difficulties in reciprocal social interactions with strong repetitive behaviors and stereotyped interests. Copy number variations (CNVs) are genomic structural variations altering the genomic struc...

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Veröffentlicht in:	Egyptian Journal of Medical Human Genetics 2020-12, Vol.21 (1), p.55-14, Article 55
Hauptverfasser:	Agarwala, Swati, Veerappa, Avinash M., Ramachandra, Nallur B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Autism pathway analysis Autism subgenome Autism-IPA Breakpoints Calcium signalling CNVs Copy number Gene regulation Genes Genomics Kinases MAP kinase Medicine Medicine & Public Health miRNA Neural coding Primary-hit Protein kinase Social interactions Stereotyped behavior
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