SGSH
NM_000199.5:p.V379delFs
Wijburg FA et al.
Molecular Genetics and Metabolism, 2022
Chistiakov DA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Muschol N et al.
Human Mutation, 2004
Yogalingam G et al.
Human Mutation, 2001