Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.I312F
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SLC6A3

NM_001044.5:p.I312F

Associated Papers

Mouse model of atypical DAT deficiency syndrome uncovers dopamine dysfunction associated with parkinsonism and ADHD.

Herborg F et al.

The Journal of Clinical Investigation, 2026

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.

Ng J et al.

Cells, 2023

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

The dopamine transporter gene SLC6A3: multidisease risks.

Reith MEA et al.

Molecular Psychiatry, 2022

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

Neuropsychiatric disease-associated genetic variants of the dopamine transporter display heterogeneous molecular phenotypes.

Herborg F et al.

The Journal of Biological Chemistry, 2018

SLC6 Transporter Folding Diseases and Pharmacochaperoning.

Freissmuth M et al.

Handbook of Experimental Pharmacology, 2018

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Hansen FH et al.

The Journal of Clinical Investigation, 2014

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

Ng J et al.

Brain : a Journal of Neurology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."