Associated Papers
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
Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.
Cameron JM et al.
International Journal of Molecular Sciences, 2017
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
Betsalel OT et al.
European Journal of Human Genetics : Ejhg, 2011
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Rosenberg EH et al.
American Journal of Human Genetics, 2004
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