Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5
Variant:p.P487L
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SLC13A5

NM_177550.5:p.P487L

Associated Papers

Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.

Ozlu C et al.

Developmental Medicine and Child Neurology, 2025

Novel Approaches to Studying SLC13A5 Disease.

Beltran AS

Metabolites, 2024

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

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

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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."