Association of rare missense variants in the second intracellular loop of Na(V)1.7 sodium channels with familial autism

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder often accompanied by intellectual disability, language impairment and medical co-morbidities. The heritability of autism is high and multiple genes have been implicated as causal. However, most of these genes have been identifie...

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Detalles Bibliográficos
Autores principales: Rubinstein, M, Patowary, A, Stanaway, I B, McCord, E, Nesbitt, R R, Archer, M, Scheuer, T, Nickerson, D, Raskind, W H, Wijsman, E M, Bernier, R, Catterall, W A, Brkanac, Z
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468514/
https://www.ncbi.nlm.nih.gov/pubmed/27956748
http://dx.doi.org/10.1038/mp.2016.222

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