Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

Eur J Hum Genet. 2019 Nov;27(11):1757-1760. Epub 2019 Jun 23

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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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Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

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