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

Abstract 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 geno...

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Bibliographic Details
Main Authors: Swati Agarwala, Avinash M. Veerappa, Nallur B. Ramachandra
Format: Article
Language:English
Published: SpringerOpen 2020-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Online Access:https://doi.org/10.1186/s43042-020-00091-3