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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| 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 |