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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Biallelic MutationsDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseSevere Intellectual DisabilityMolecular GeneticsDisease Gene IdentificationGrowth RetardationMedicine