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
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
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
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Clark AJ et al.
Human Genetics, 2006
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