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DESCRIBE <http://purl.uniprot.org/SHA-384/4A4CB279887BE6BE41ED7EFC8C6564929E61592CC32DA49089FC3321AE186879474A81D298BFEB1AE76F62D04CE318CC>
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http://purl.uniprot.org/SHA-384/4A4CB279887BE6BE41ED7EFC8C6564929E61592CC32DA49089FC3321AE186879474A81D298BFEB1AE76F62D04CE318CC
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4A4CB279887BE6BE41ED7EFC8C6564929E61592CC32DA49089FC3321AE186879474A81D298BFEB1AE76F62D04CE318CC
http://www.w3.org/2000/01/rdf-schema#comment
"Three rare missense mutations of CACNB2 (G167S S197F and F240L) found in Autism Spectrum Disorders (ASD)-affected families are reported."
xsd:string
http://purl.uniprot.org/uniprot/#_53C6262DEA3DC66F4D25EC2D14AE3FA3D836F7F35060AF013D22AE50653A355540241044DB7892FBB3A6771F38EF0B1A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4A4CB279887BE6BE41ED7EFC8C6564929E61592CC32DA49089FC3321AE186879474A81D298BFEB1AE76F62D04CE318CC
http://purl.uniprot.org/uniprot/Q6TME0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4A4CB279887BE6BE41ED7EFC8C6564929E61592CC32DA49089FC3321AE186879474A81D298BFEB1AE76F62D04CE318CC
http://purl.uniprot.org/uniprot/#_Q6TME0-mappedCitation-24752249
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4A4CB279887BE6BE41ED7EFC8C6564929E61592CC32DA49089FC3321AE186879474A81D298BFEB1AE76F62D04CE318CC