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DESCRIBE <http://purl.uniprot.org/SHA-384/1B7470D2A3546D5D764C9629B79665001E3E765411866ABC709DE165759AC2FF3E6FAE7DFD59D1326EA7DC8D3AEB6BD6>
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http://purl.uniprot.org/SHA-384/1B7470D2A3546D5D764C9629B79665001E3E765411866ABC709DE165759AC2FF3E6FAE7DFD59D1326EA7DC8D3AEB6BD6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/1B7470D2A3546D5D764C9629B79665001E3E765411866ABC709DE165759AC2FF3E6FAE7DFD59D1326EA7DC8D3AEB6BD6
http://www.w3.org/2000/01/rdf-schema#comment
"Mutations in the regulatory alternative exon of SNRPB disrupted it's auto-regulation and caused cerebro-costo-mandibular syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_6E6AC6ADE57DCCA45BEEDA1027B953DDC1AD1466EA810CE0DB2E7BA6C8E82F82DBCC5BD3F4305F24BB9D702F1E1BF43A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/1B7470D2A3546D5D764C9629B79665001E3E765411866ABC709DE165759AC2FF3E6FAE7DFD59D1326EA7DC8D3AEB6BD6
http://purl.uniprot.org/uniprot/Q66K91
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1B7470D2A3546D5D764C9629B79665001E3E765411866ABC709DE165759AC2FF3E6FAE7DFD59D1326EA7DC8D3AEB6BD6
http://purl.uniprot.org/uniprot/#_Q66K91-mappedCitation-25047197
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1B7470D2A3546D5D764C9629B79665001E3E765411866ABC709DE165759AC2FF3E6FAE7DFD59D1326EA7DC8D3AEB6BD6