Associated Papers
Biallelic Variant in SLC6A17 in a Pakistani Family With Autosomal Recessive Intellectual Disability.
Asghar MA et al.
Clinical Genetics, 2026
In silico structural studies on the vesicular neutral amino acid transporter NTT4 (SLC6A17).
Kukułowicz J et al.
Computational and Structural Biotechnology Journal, 2024
Importance of glutamine in synaptic vesicles revealed by functional studies of SLC6A17 and its mutations pathogenic for intellectual disability.
Jia X et al.
Elife, 2023
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Ben-Mahmoud A et al.
Frontiers in Molecular Neuroscience, 2022
36277487 (PubMed )
Supplement: Table_2.docx
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Mutations in SLC6A17 cause autosomal-recessive intellectual disability.
Waltl S
Clinical Genetics, 2015
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Iqbal Z et al.
American Journal of Human Genetics, 2015
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