Associated Papers
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15.
Mitsutake A et al.
Neurogenetics, 2026
Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
Jin D et al.
Clinical Genetics, 2023
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