Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewed
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
Johannes Luppe, Heinrich Sticht, François Lecoquierre…·Konrad Platzer
The paper identifies STX1A variants causing a neurodevelopmental disorder with or without epilepsy, showing different phenotypes based on variant type.
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