Associated Papers
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
Oprescu SN et al.
Human Mutation, 2017
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Gall T et al.
Frontiers in Medicine, 2017
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