Karl Haeberlein

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNA HIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been as...