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A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
Maria Barington, Lotte Risom, Jakob Ek, Peter Uldall,
Elsebet Ostergaard
Department of Clinical Medicine
2
Citations (Scopus)
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Dive into the research topics of 'A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder'. Together they form a unique fingerprint.
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Keyphrases
Seizure
100%
Autism Spectrum Disorder
100%
Intellectual Disability
100%
CUX2
100%
Missense Variants
100%
Etiology
20%
Infantile Autism
20%
Human Brain Function
20%
Causal Impact
20%
Whole Exome Sequencing
20%
Epilepsy
20%
Myoclonic Seizures
20%
Cognitive Impairment
20%
Epileptic Encephalopathy
20%
Transcription Factor
20%
Nervous Tissue
20%
Moderate to Severe
20%
Neuroscience
Pervasive Developmental Disorder
100%
Cognitive Disorder
33%
Transcription Factor
33%
Nerve Tissue
33%
Exome Sequencing
33%
Brain Disease
33%
Brain Function
33%
Myoclonic Seizure
33%
Biochemistry, Genetics and Molecular Biology
Missense
100%
Intellectual Disability
100%
Exome Sequencing
20%
Transcription Factor
20%
Brain Function
20%