Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.I230F
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SLC19A2

NM_006996.3:p.I230F

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

Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.

Sun C et al.

Journal of Diabetes, 2018

Unusual case of thiamine responsive megaloblastic anemia.

Tinsa F et al.

La Tunisie Medicale, 2009

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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."