Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.I452T
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SLC19A3

NM_025243.4:p.I452T

Associated Papers

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

41058593 (PubMed )
Supplement: awaf379_supplementary_data.zip › brain-2025-00177-File011.xlsx › SupplementaryTable4

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.

Ferreira CR et al.

American Journal of Medical Genetics. Part A, 2017

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