Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation
until further notice
SourceEuropean Journal of Human Genetics, 27, 11, (2019), pp. 1757-1760
Article / Letter to editor
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European Journal of Human Genetics
SubjectRadboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
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