Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.E128K
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SLC19A2

NM_006996.3:p.E128K

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

Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.

Ghaemi N et al.

Journal of Clinical Research in Pediatric Endocrinology, 2013

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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."