Heterozygous variants in SPTBN1 cause intellectual disability and autism

Medicine and Dentistry

• Diseases 100%
• Spectrin 100%
• Cognition 33%
• Neurologic Disease 33%
• Erythroid Cell 33%
• Electroencephalogram 33%
• Learning Disorder 33%
• Nerve Cell Differentiation 33%
• Cytoskeleton 33%
• Haploinsufficiency 33%
• Developmental Delay 33%
• Exome Sequencing 33%
• Epileptic Seizure 33%
• Cell Membrane 33%
• Signal Transduction 33%

Biochemistry, Genetics and Molecular Biology

• Mental Retardation 100%
• Spectrin 100%
• SPTAN1 66%
• Signal Transduction 33%
• Exome Sequencing 33%
• Missense 33%
• Cytoskeleton 33%
• Nerve Cell Differentiation 33%
• Electroencephalogram 33%
• Haploinsufficiency 33%
• Transmembrane Protein 33%
• Cell Membrane 33%
• Cognition 33%