Pir MS et al.
Nucleic Acids Research, 2022
Su Y et al.
Annals of Translational Medicine, 2019
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Aulehla-Scholz C et al.
Human Mutation, 2003
Yilmaz E et al.
Journal of Inherited Metabolic Disease, 2000