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Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays

Autism spectrum disorder (ASD) is a common, complex, and highly heritable condition with contributions from both common and rare genetic variations. While disruptive, rare variants in protein-coding regions clearly contribute to symptoms, the role of rare non-coding remains unclear. Variants in thes...

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Detalles Bibliográficos
Autores principales: Koesterich, Justin, An, Joon-Yong, Inoue, Fumitaka, Sohota, Ajuni, Ahituv, Nadav, Sanders, Stephan J., Kreimer, Anat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9959321/
https://www.ncbi.nlm.nih.gov/pubmed/36834916
http://dx.doi.org/10.3390/ijms24043509