Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.F365fs
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SLC6A8

NM_005629.4:p.F365fs

Associated Papers

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

Abdennadher M et al.

American Journal of Medical Genetics. Part A, 2024

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.

Levin MD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34050321 (PubMed )
Supplement: NIHMS1717831-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
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