Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.W358*
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SLC19A2

NM_006996.3:p.W358*

Associated Papers

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

Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.

Subramanian VS et al.

Clinical Science (london, England : 1979), 2007

Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.

Lagarde WH et al.

American Journal of Medical Genetics. Part A, 2004

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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."