Genetic & Genomic MedicinemedRxivPreprint
AlphaGenome identifies a deep intronic variant in a family with PLA2G6-associated neurodegeneration: Closing the diagnostic gap in rare genetic diseases
Sarah J. Eger, Greizy López, Luisa Fernanda Gómez Navarro…·Kenneth S. Kosik
DOI 10.64898/2026.06.10.26355004