Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We have performed whole genome and/or exome sequencing (WGS and WES) and SNP-array analysis to identify both rare sequence and copy number...

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Detalles Bibliográficos
Autores principales: Bacchelli, Elena, Viggiano, Marta, Ceroni, Fabiola, Visconti, Paola, Posar, Annio, Scaduto, Maria, Sandoni, Laura, Baravelli, Irene, Cameli, Cinzia, Rochat, Magali, Maresca, Alessandra, Vaisfeld, Alessandro, Gentilini, Davide, Calzari, Luciano, Carelli, Valerio, Zody, Michael, Maestrini, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Journal Experts 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10635364/
https://www.ncbi.nlm.nih.gov/pubmed/37961520
http://dx.doi.org/10.21203/rs.3.rs-3468592/v1

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