Associated Papers
ProteoMutaMetrics: machine learning approaches for solute carrier family 6 mutation pathogenicity prediction.
Huang J et al.
Rsc Advances, 2024
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Abdennadher M et al.
American Journal of Medical Genetics. Part A, 2024
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E et al.
Journal of Molecular Biology, 2024
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Levin MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34050321 (PubMed )
Supplement: NIHMS1717831-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
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