Associated Papers
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Juliá-Palacios N et al.
Brain Communications, 2025
41040850 (PubMed )
Supplement: fcaf348_supplementary_data.zip › Supplementary_Tables_1-6.xlsx › Suppl._Table2
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Batzios S et al.
Human Molecular Genetics, 2022
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
Wang N et al.
Human Mutation, 2017
Accounting for Protein Subcellular Localization: A Compartmental Map of the Rat Liver Proteome.
Jadot M et al.
Molecular & Cellular Proteomics : Mcp, 2017
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