PYGL
NM_002863.5:p.R816*
Hahn JW et al.
Orphanet Journal of Rare Diseases, 2023
Liu B et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Aeppli TR et al.
European Journal of Pediatrics, 2020
Hoogeveen IJ et al.
Jimd Reports, 2016