De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Keyphrases

• Neurodevelopmental Disorders 100%
• F-box Protein 100%
• FBXO11 100%
• Cleft Palate 40%
• Missense Variant 40%
• E3 Ubiquitin Ligase 20%
• Next-generation Sequencing 20%
• Loss Function 20%
• Large Deletion 20%
• Seizure 20%
• Exome Sequencing 20%
• Biological Processes 20%
• Aberrations 20%
• Intellectual Disability 20%
• Obesity 20%
• Protein Family 20%
• Structural Modeling 20%
• Zinc Finger 20%
• Bifid Uvula 20%
• Microcephaly 20%
• Disease-causing mutations 20%
• Haploinsufficiency 20%
• Disease Genes 20%
• Proteasomal Degradation 20%
• Genotype-phenotype Correlation 20%
• Protein Turnover 20%
• Macrocephaly 20%
• Missense 20%
• International Data Sharing 20%
• New Disease 20%
• Severe Developmental Delay 20%
• Heterogeneous Entities 20%
• Skeletal Anomalies 20%
• Behavioral Problems 20%
• Ubiquitination Degradation 20%

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• F-Box Protein 100%
• Exome Sequencing 33%
• Next Generation Sequencing 33%
• Biological Phenomena and Functions Concerning the Entire Organism 33%
• Protein Family 33%
• Ubiquitination 33%
• Intellectual Disability 33%
• Haploinsufficiency 33%
• Body Height 33%
• Ubiquitin-Conjugating Enzyme 33%
• Genotype-Phenotype Correlation 33%
• Problem Behavior 33%
• Protein Turnover 33%