Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.S176T
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SLC19A3

NM_025243.4:p.S176T

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

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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."