Journal of Human Genetics· 2026Q2
Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy
- 0citations
- Q2SCImago
- 2026year
Short summary
A 27-year-old patient, the oldest reported with GlyT1 encephalopathy, was identified with two novel SLC6A9 variants, offering new phenotypic insights and potential prognostic indicators for this ultra-rare disorder.
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