Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.T170P
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SLC19A2

NM_006996.3:p.T170P

Associated Papers

The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.

Enogieru OJ et al.

The Aaps Journal, 2021

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

Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes.

Liu G et al.

Blood Cells, Molecules & Diseases, 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."