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Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk

Over the past decade, a focus on de novo mutations has rapidly accelerated gene discovery in autism spectrum disorder (ASD), intellectual disability (ID), and other neurodevelopmental disorders (NDDs). However, recent studies suggest that only a minority of cases are attributable to de novo mutation...

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Detalles Bibliográficos
Autores principales: McKenna, Brooke, Koomar, Tanner, Vervier, Kevin, Kremsreiter, Jamie, Michaelson, Jacob J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318775/
https://www.ncbi.nlm.nih.gov/pubmed/30559312
http://dx.doi.org/10.1101/mcs.a003285