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_MOESM2_ESM.xlsx › Sheet1
Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.
Salazar MD et al.
Biochemistry, 2020
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
DesRoches CL et al.
Gene, 2015
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
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg EH et al.
Human Mutation, 2007
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Clark AJ et al.
Human Genetics, 2006
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Rosenberg EH et al.
American Journal of Human Genetics, 2004
A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
Zhang Z et al.
Journal of the American Medical Informatics Association : Jamia, 0
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