Abstract
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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CITATION STYLE
APA
Jaeken, J., Lefeber, D. J., & Matthijs, G. (2019). Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation. European Journal of Human Genetics, 27(11), 1757–1760. https://doi.org/10.1038/s41431-019-0453-y
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