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Elongation Factor 2 Kinase; Exome; Heterozygote; Hydrocephalus; Mutation; Neurodevelopmental Disorders
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information resource reference
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De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus. Hum Mol Genet. 2021 02 25; 29(24):3892-3899.
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label
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De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
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