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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Bibliografski detalji
Izdano u:Hum Genomics
Glavni autori: Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, Gaëtan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, Sonié, Sandrine, Edery, Patrick
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Primary Research
Online pristup: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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