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DESCRIBE <http://purl.uniprot.org/SHA-384/200F1C0AF96C420435F2240C690AB52D7B516DFD134A034C5079FFD089DCCB6D156936DC3FE1E2AD56A3DAAA77D18DF3>
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http://purl.uniprot.org/SHA-384/200F1C0AF96C420435F2240C690AB52D7B516DFD134A034C5079FFD089DCCB6D156936DC3FE1E2AD56A3DAAA77D18DF3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/200F1C0AF96C420435F2240C690AB52D7B516DFD134A034C5079FFD089DCCB6D156936DC3FE1E2AD56A3DAAA77D18DF3
http://www.w3.org/2000/01/rdf-schema#comment
"sequenced the exomes of ten individuals with Nicolaides-Baraitser syndrome and identified heterozygous variants in SMARCA2 in eight of them."
xsd:string
http://purl.uniprot.org/uniprot/#_DEE86B4D6361E17552246035B28E5F71EFB53EECB7F95E875354EB10995B65DF18DADAE4F0FFE0586A38DD1ECAAB8E11
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/200F1C0AF96C420435F2240C690AB52D7B516DFD134A034C5079FFD089DCCB6D156936DC3FE1E2AD56A3DAAA77D18DF3
http://purl.uniprot.org/uniprot/B1ALF6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/200F1C0AF96C420435F2240C690AB52D7B516DFD134A034C5079FFD089DCCB6D156936DC3FE1E2AD56A3DAAA77D18DF3
http://purl.uniprot.org/uniprot/#_B1ALF6-mappedCitation-22366787
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/200F1C0AF96C420435F2240C690AB52D7B516DFD134A034C5079FFD089DCCB6D156936DC3FE1E2AD56A3DAAA77D18DF3