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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC19A3

Variant:p.V391ins1

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SLC19A3

NM_025243.4:p.V391ins1

hg38:chr2:227695889 A>AATG

Associated Papers

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

31095747 (PubMed )

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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."