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
Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism.
Almatrafi M et al.
Journal of Autism and Developmental Disorders, 2023
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
van de Kamp JM et al.
Journal of Inherited Metabolic Disease, 2014
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM et al.
Journal of Medical Genetics, 2013
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