Publication | Open Access
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
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Citations
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References
2021
Year
Neurodevelopmental DisordersAllelic VariantMendelian DisorderBrain DevelopmentMedicineGeneticsBi-allelic VariantsGenetic EpidemiologyGenetic DisorderNeurodevelopmental Spectrum DiseaseNeuroscienceNeurologyDisease Gene IdentificationVisual ImpairmentSocial SciencesVariant InterpretationNeurogenetics
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