Associated Papers
ProteoMutaMetrics: machine learning approaches for solute carrier family 6 mutation pathogenicity prediction.
Huang J et al.
Rsc Advances, 2024
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E et al.
Journal of Molecular Biology, 2024
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
37587458 (PubMed )
Supplement: 12864_2023_9561_MOESM1_ESM.xlsx › CuratedVariants
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
Mencarelli MA et al.
American Journal of Medical Genetics. Part A, 2011
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