Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.G172R
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SLC19A2

NM_006996.3:p.G172R

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

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.

Shaw-Smith C et al.

Pediatric Diabetes, 2012

Thiamine transporter mutation: an example of monogenic diabetes mellitus.

Alzahrani AS et al.

European Journal of Endocrinology, 2006

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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."