Genetic & Genomic MedicinemedRxivPreprint
Identification of co-segregating RUBCN and KANK1 mutations in a UK amyotrophic lateral sclerosis kindred
Midhat Salman, Intan Barul Akma Bakhtiar, Alex G. Morris…·Jacqueline de Belleroche
The paper identifies co-segregating RUBCN and KANK1 mutations in a UK ALS family, showing their association with disease and functional impact on cellular processes.
DOI 10.1101/2025.07.23.25331426