Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5
Variant:p.T145K
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SLC13A5

NM_177550.5:p.T145K

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

Novel Approaches to Studying SLC13A5 Disease.

Beltran AS

Metabolites, 2024

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

A home run for human NaCT/SLC13A5/INDY: cryo-EM structure and homology model to predict transport mechanisms, inhibitor interactions and mutational defects.

Jaramillo-Martinez V et al.

The Biochemical Journal, 2021

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

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

Schossig A et al.

Journal of Medical Genetics, 2017

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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."