Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A2
Variant:p.T142M
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SLC13A2

NM_003984.4:p.T142M

Associated Papers

SLC13 sodium-carboxylate transporters: function, regulation and pathophysiological implications in human disease.

Li P et al.

Biochemical Pharmacology, 2026

Functional Distinction between Human and Mouse Sodium-Coupled Citrate Transporters and Its Biologic Significance: An Attempt for Structural Basis Using a Homology Modeling Approach.

Jaramillo-Martinez V et al.

Chemical Reviews, 2021

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

Hardies K et al.

Brain : a Journal of Neurology, 2015

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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."