Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.Q439*
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SLC6A3

NM_001044.5:p.Q439*

Associated Papers

Dopamine Transporter Deficiency Syndrome: A Rare Case of Infantile-Onset Dystonia-Parkinsonism.

Madduluri B et al.

Journal of Movement Disorders, 2025

40262646 (PubMed )
Supplement: jmd-25057-Supplementary-Table-1.pdf

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

Ng J et al.

Cells, 2023

The dopamine transporter gene SLC6A3: multidisease risks.

Reith MEA et al.

Molecular Psychiatry, 2022

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Carta E et al.

The Journal of Biological Chemistry, 2012

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.

Kurian MA et al.

The Lancet. Neurology, 2011

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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."