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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.
Alsemari A et al.
Pediatric Neurology, 2024
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
AlQudairy H et al.
Frontiers in Pediatrics, 2022
36923948 (PubMed )
Supplement: Table1.xlsx › Combined_Table
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S et al.
Epilepsia, 2020
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
Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.
Yang QZ et al.
Child Neurology Open, 0
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