De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Ito, Yoko, Carss, Keren J., Duarte, Sofia T., Hartley, Taila, Keren, Boris, Kurian, Manju A., Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, Sanchis-Juan, Alba, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Boycott, Kym M., Kernohan, Kristin D., Dyack, Sarah, Raymond, F. Lucy
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6037130/
https://ncbi.nlm.nih.gov/pubmed/29961568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.06.001
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