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Functional characterization of TBR1 variants in neurodevelopmental disorder

Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated that they disrupt TBR1 protein function. Recent scr...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: den Hoed, Joery, Sollis, Elliot, Venselaar, Hanka, Estruch, Sara B., Deriziotis, Pelagia, Fisher, Simon E.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6155134/
https://ncbi.nlm.nih.gov/pubmed/30250039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-32053-6
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