Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder

Oligogenic inheritance of autism spectrum disorder (ASD) has been supported by several studies. However, little is known about how the risk variants interact and converge on causative neurobiological pathways. We identified in an ASD proband deleterious compound heterozygous missense variants in the...

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Detalles Bibliográficos
Autores principales: Teles e Silva, André Luíz, Glaser, Talita, Griesi-Oliveira, Karina, Corrêa-Velloso, Juliana, Wang, Jaqueline Yu Ting, da Silva Campos, Gabriele, Ulrich, Henning, Balan, Andrea, Zarrei, Mehdi, Higginbotham, Edward J., Scherer, Stephen W., Passos-Bueno, Maria Rita, Sertié, Andrea Laurato
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170683/
https://www.ncbi.nlm.nih.gov/pubmed/35668055
http://dx.doi.org/10.1038/s41398-022-01997-9

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