Associated Papers
Exonic splicing code and coordination of divalent metals in proteins.
Bakhtiar D et al.
Nucleic Acids Research, 2024
38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf
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
Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.
Cameron JM et al.
International Journal of Molecular Sciences, 2017
28758966 (PubMed )
Supplement: ijms-18-01665-s001.zip › Supp_Table_3_Summary_of_SLC6A8_gene_seq_results_divided_by_population.xlsx › Sheet1
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Rosenberg EH et al.
American Journal of Human Genetics, 2004
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