Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort…·J. Paul Taylor
The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.
44 citations