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DESCRIBE <http://purl.uniprot.org/SHA-384/33E21957C38BC29AFFD44074C21DFE6F686AD5BE2FB7D8268F3BF7E904B2832EF3E5D6010848EFC3D765C2EADE025CAC>
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http://purl.uniprot.org/SHA-384/33E21957C38BC29AFFD44074C21DFE6F686AD5BE2FB7D8268F3BF7E904B2832EF3E5D6010848EFC3D765C2EADE025CAC
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/33E21957C38BC29AFFD44074C21DFE6F686AD5BE2FB7D8268F3BF7E904B2832EF3E5D6010848EFC3D765C2EADE025CAC
http://www.w3.org/2000/01/rdf-schema#comment
"De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes."
xsd:string
http://purl.uniprot.org/uniprot/#_DA636D863D7C97DA71548366A1D9C0B73CF3103C1042E168F62F534602A290BE4D2B0259CD854D3A645EAA8D49BA13FB
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/33E21957C38BC29AFFD44074C21DFE6F686AD5BE2FB7D8268F3BF7E904B2832EF3E5D6010848EFC3D765C2EADE025CAC
http://purl.uniprot.org/uniprot/Q9HDB7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/33E21957C38BC29AFFD44074C21DFE6F686AD5BE2FB7D8268F3BF7E904B2832EF3E5D6010848EFC3D765C2EADE025CAC
http://purl.uniprot.org/uniprot/#_Q9HDB7-mappedCitation-35607920
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/33E21957C38BC29AFFD44074C21DFE6F686AD5BE2FB7D8268F3BF7E904B2832EF3E5D6010848EFC3D765C2EADE025CAC