Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.W94R
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SLC19A3

NM_025243.4:p.W94R

Associated Papers

Structural basis of thiamine transport and drug recognition by SLC19A3.

Gabriel F et al.

Nature Communications, 2024

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Wang J et al.

Frontiers in Genetics, 2021

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.

Alfadhel M et al.

Annals of Clinical and Translational Neurology, 2019

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

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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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."