Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.G386R
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SLC6A3

NM_001044.5:p.G386R

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

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