Genetic & Genomic MedicinemedRxivPreprint
Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range
Stacy G. Guzman, Sarah McKeown Ruggiero, Shiva Ganesan…·Ingo Helbig
The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.
DOI 10.1101/2025.02.10.25321755