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Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

Foetal AkinesiaEngineeringMendelian DisorderGenetic DisorderMedicineGeneticsNext-generation SequencingWhole Exome SequencingGenotype–phenotype SpectrumMolecular GeneticsDisease Gene IdentificationGenomicsSystems BiologyMolecular Diagnostics