Copy number and sequence variants implicate APBA2 as an autism candidate gene

Keyphrases

• 15q11-q13 20%
• 4 Gene 20%
• Adaptor Protein 20%
• Affected Siblings 40%
• Amyloid Precursor Protein 100%
• Autism 100%
• Autism Spectrum Disorder 80%
• Binding Protein 100%
• Coding Variants 20%
• Compound Heterozygous mutation 20%
• Copy number Variation 100%
• Duplication 40%
• Heterozygous Missense mutation 20%
• Maternally Inherited 40%
• Microduplication 20%
• Non-synonymous mutation 20%
• Nonsynonymous 20%
• NRXN1 20%
• Proband 20%
• Protein Binding 100%
• Protein Function 20%
• Sequence Variants 100%
• Sibship 20%
• Single-family 20%
• Synaptic Membrane 20%
• Synaptic Transmission 20%
• Synonymous Variant 20%

Neuroscience

• Adaptor Protein 10%
• Amyloid Precursor Protein 100%
• Autism 100%
• Missense Mutation 10%
• Pervasive Developmental Disorder 40%
• Presynaptic Membrane 10%
• Protein Binding 100%
• Protein Function 10%
• Synaptic Transmission 10%

Biochemistry, Genetics and Molecular Biology

• Amyloid Precursor Protein 100%
• Binding Protein 100%
• Candidate Gene 100%
• Missense Mutation 10%
• NRXN1 10%
• Presynaptic Membrane 10%
• Proband 10%
• Protein Function 10%
• Synaptic Transmission 10%