ALG1
NM_019109.5:p.M382T
Xue Y et al.
Molecular Genetics & Genomic Medicine, 2023
Öncül Ü et al.
Molecular Syndromology, 2022
González-Domínguez CA et al.
Frontiers in Genetics, 2021
Ng BG et al.
Human Mutation, 2016
Rohlfing AK et al.
Gene, 2014