Publication | Open Access
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
52
Citations
14
References
2017
Year
Molecular Diagnostic TechniquesMendelian DisorderMedicineGeneticsPhenotype-first ApproachUndiagnosed DiseasesPathologyComplex DiseaseDiagnostic ResolutionOmicsDisease Gene IdentificationBiomarker DiscoveryMolecular DiagnosticsBioinformaticsVariant Interpretation
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