MAN2B1
NM_000528.4:p.L78P
Šáhó R et al.
Journal of Inherited Metabolic Disease, 2025
Nurse JH et al.
Genetics in Medicine Open, 2025
Guffon N et al.
Journal of Inherited Metabolic Disease, 2023
Park JE et al.
Frontiers in Genetics, 2023