Associated Papers
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.
Delinière A et al.
Heart Rhythm, 2026
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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
Creatine transporter deficiency in two half-brothers.
Ardon O et al.
American Journal of Medical Genetics. Part A, 2010
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