Associated Papers
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB et al.
American Journal of Human Genetics, 2024
38781976 (PubMed )
Supplement: mmc10.pdf
SLC6A1 G443D associated with developmental delay and epilepsy.
Devries S et al.
Cold Spring Harbor Molecular Case Studies, 2020
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