Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewed
Novel FARS2 mutations in patients with non-fatal early onset encephalopathy with or without epilepsy
Giulia Barcia, Marlène Rio, Zahra Assouline…·Benedetta Ruzzenente
The paper reports three novel compound heterozygous FARS2 mutations in patients with non-fatal early onset encephalopathy and epilepsy.