Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5
Variant:p.S217N
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SLC13A5

NM_177550.5:p.S217N

Associated Papers

Large-scale experimental assessment of variant effects on the structure and function of the citrate transporter SLC13A5.

Wang WA et al.

Science Advances, 2025

Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system.

Spelbrink EM et al.

Frontiers in Genetics, 2023

Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder.

Brown TL et al.

Metabolites, 2021

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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."