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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Publicat a:Hum Genomics
Autors principals: Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, Gaëtan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, Sonié, Sandrine, Edery, Patrick
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Primary Research
Accés en línia: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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