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Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

BACKGROUND: SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsible for re-uptake of GABA from the synapse into the pre-synaptic terminal or...

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Detalles Bibliográficos
Autores principales: Bain, Jennifer M., Snyder, LeeAnne Green, Helbig, Katherine L., Cooper, Dominique D., Chung, Wendy K., Goodspeed, Kimberly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9238190/
https://www.ncbi.nlm.nih.gov/pubmed/35761184
http://dx.doi.org/10.1186/s11689-022-09449-7