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DESCRIBE <http://purl.uniprot.org/SHA-384/CF34B90CA056DAD3C98E8485A3A5C3606AFD6845D86F7BE18FE1068AE11F8BFB23E3289F130F5AD999E7746A836C658E>
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http://purl.uniprot.org/SHA-384/CF34B90CA056DAD3C98E8485A3A5C3606AFD6845D86F7BE18FE1068AE11F8BFB23E3289F130F5AD999E7746A836C658E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/CF34B90CA056DAD3C98E8485A3A5C3606AFD6845D86F7BE18FE1068AE11F8BFB23E3289F130F5AD999E7746A836C658E
http://www.w3.org/2000/01/rdf-schema#comment
"We identified 24 de novo NBEA variants in patients with neurodevelopmental disease establishing NBEA as an neurodevelopmental disease gene"
xsd:string
http://purl.uniprot.org/uniprot/#_F7B54BC5D275A05A76A732B0780A29E29F10B1BE88AC8065028E9A7344008148567857D7BF6877C74225833EDB3F6538
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/CF34B90CA056DAD3C98E8485A3A5C3606AFD6845D86F7BE18FE1068AE11F8BFB23E3289F130F5AD999E7746A836C658E
http://purl.uniprot.org/uniprot/B3KVG9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CF34B90CA056DAD3C98E8485A3A5C3606AFD6845D86F7BE18FE1068AE11F8BFB23E3289F130F5AD999E7746A836C658E
http://purl.uniprot.org/uniprot/#_B3KVG9-mappedCitation-30269351
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CF34B90CA056DAD3C98E8485A3A5C3606AFD6845D86F7BE18FE1068AE11F8BFB23E3289F130F5AD999E7746A836C658E