Associated Papers
ProteoMutaMetrics: machine learning approaches for solute carrier family 6 mutation pathogenicity prediction.
Huang J et al.
Rsc Advances, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
Li N et al.
Brain : a Journal of Neurology, 2022
34077496 (PubMed )
Supplement: awab209_supplementary_data.zip › brain-2020-02299-File011.pdf
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
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
Betsalel OT et al.
Molecular Genetics and Metabolism, 2012
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