Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.I139N
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SLC19A2

NM_006996.3:p.I139N

Associated Papers

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

Wang J et al.

Frontiers in Genetics, 2021

34276785 (PubMed )
Supplement: Table_1.XLSX › Summary_of_clinical_and_genetic

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

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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."