HGD
NM_000187.4:p.M396_A397Splc
Soltysova A et al.
European Journal of Human Genetics : Ejhg, 2022
Zatkova A
Journal of Inherited Metabolic Disease, 2011
Vilboux T et al.
Human Mutation, 2009
Ladjouze-Rezig A et al.
Joint Bone Spine, 2006