Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.I43F
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SLC18A2

NM_003054.6:p.I43F

Associated Papers

SLC18A2 associated infantile-onset- parkinsonism-dystonia 2: A novel genotype.

Janardhanan A et al.

Parkinsonism & Related Disorders, 2025

Tricyclic and tetracyclic antidepressants upregulate VMAT2 activity and rescue disease-causing VMAT2 variants.

Wang X et al.

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2024

39060436 (PubMed )
Supplement: 41386_2024_1914_MOESM1_ESM.docx

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

Mastrangelo M et al.

Genes, 2023

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Saida K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

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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."