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
Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy.
Jaramillo-Martinez V et al.
Journal of Molecular Biology, 2024
Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy.
Jaramillo-Martinez V et al.
Biorxiv : the Preprint Server for Biology, 2024
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L et al.
Genes, 2022
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S et al.
Epilepsia, 2020
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