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 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A et al.
Brain : a Journal of Neurology, 2023
37647852 (PubMed )
Supplement: awad292_supplementary_data.zip › brain-2022-02416-File005.xlsx › GnomAD_variants
Identification of a glycine motif required for packing in EmrE, a multidrug transporter from Escherichia coli.
Elbaz Y et al.
The Journal of Biological Chemistry, 2008
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