Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.G499Splc
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SLC6A8

NM_005629.4:p.G499Splc

Associated Papers

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.

Lyons EL et al.

Bmc Genomics, 2023

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
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