A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

BACKGROUND: In order to be able to provide accurate genetic counseling to patients with Autism Spectrum Disorder (ASD), it is crucial to identify correlations between heterogeneous phenotypes and genetic alterations. Among the hundreds of de novo pathogenic variants reported in ASD, single-nucleotid...

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Detalhes bibliográficos
Publicado no:Hum Genomics
Main Authors: Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, Gaëtan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, Sonié, Sandrine, Edery, Patrick
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Primary Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7501624/
https://ncbi.nlm.nih.gov/pubmed/32948248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-020-00281-5
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