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Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation
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1994
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Steroid 21-Hydroxylase GeneMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathologyMolecular GeneticsMutational SpectrumDisease Gene IdentificationMedicineDisease ManifestationVariant InterpretationClinical Genetics
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