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has major subject area list Agenesis of Corpus Callosum; Cerebellum; Mutation, Missense; Neurodevelopmental Disorders
information resource reference Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet. 2021 05 06; 108(5):951-961.
label Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
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  • Neurodevelopment