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STXBP1
HGNC ↗STXBP1-related disorders (epileptic encephalopathy and neurodevelopmental disorder)
2 article(s) in the watch · Constitutional genetics · Bioinformatics & AI
Curated publications
6/10
Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay.
STXBP1-related disorders (epileptic encephalopathy and neurodevelopmental disorder)
Gén.6 October 2026
6/10Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1.
STXBP1-related developmental and epileptic encephalopathies
Bio22 September 2026
External references
Automatic aggregation page — a clinical introduction may be added.