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Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

2019-12-04

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<h4>ABSTRACT</h4> The Neuro-Oncological Ventral Antigen 2 NOVA2 protein is a major factor regulating neuron specific alternative splicing, previously associated with an acquired neurologic condition, the paraneoplastic opsoclonus-myoclonus ataxia (POMA). We report here six individuals with de novo frameshift variants in the NOVA2 gene affected with a severe neurodevelopmental disorder characterized by intellect...

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Literature Corpus work: 895917e9-202f-5076-a3a2-de96f26877f8
DOI: 10.1101/858696

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Highly clustered <i>de novo</i> frameshift variants in the neuronal splicing factor <i>NOVA2</i> result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

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