Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.E320A
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SLC19A3

NM_025243.4:p.E320A

Associated Papers

Substrate transport and drug interaction of human thiamine transporters SLC19A2/A3.

Li P et al.

Nature Communications, 2024

39738067 (PubMed )
Supplement: 41467_2024_55359_MOESM4_ESM.zip › Source_Data › 510535_2_data_set_9831681_sm6ylt.xlsx › Fig.2

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

Marcé-Grau A et al.

Journal of Inherited Metabolic Disease, 2019

Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2.

Subramanian VS et al.

American Journal of Physiology. Cell Physiology, 2006

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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."