Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.Q393fs
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SLC19A3

NM_025243.4:p.Q393fs

Associated Papers

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.

Whitford W et al.

Cold Spring Harbor Molecular Case Studies, 2017

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

Ortigoza-Escobar JD et al.

Annals of Neurology, 2017

Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.

Schänzer A et al.

Brain Pathology (zurich, Switzerland), 2014

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