Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A10
Variant:p.R417H
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SLC5A10

NM_152351.6:p.R417H

Associated Papers

SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia.

Diederich J et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors.

Veiga-da-Cunha M et al.

Diagnostics (basel, Switzerland), 2023

Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.

Boulanger C et al.

Journal of Inherited Metabolic Disease, 2022

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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."