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DESCRIBE <http://purl.uniprot.org/SHA-384/458DEE019E467CC295DBC8527D8831F59AE3CDEF43DDC7A80EB33FADF68F643F1BC423CAB1AA66D2AE5C576FF594248D>
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http://purl.uniprot.org/SHA-384/458DEE019E467CC295DBC8527D8831F59AE3CDEF43DDC7A80EB33FADF68F643F1BC423CAB1AA66D2AE5C576FF594248D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/458DEE019E467CC295DBC8527D8831F59AE3CDEF43DDC7A80EB33FADF68F643F1BC423CAB1AA66D2AE5C576FF594248D
http://www.w3.org/2000/01/rdf-schema#comment
"De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia."
xsd:string
http://purl.uniprot.org/uniprot/#_3E6B47F20AAEAF90E22E86B67B68EF82678D85E0C3B3A6055E407021121B2FDA4B3EACBF7FA071194DDF27094A592BE6
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/458DEE019E467CC295DBC8527D8831F59AE3CDEF43DDC7A80EB33FADF68F643F1BC423CAB1AA66D2AE5C576FF594248D
http://purl.uniprot.org/uniprot/Q9CV93
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/458DEE019E467CC295DBC8527D8831F59AE3CDEF43DDC7A80EB33FADF68F643F1BC423CAB1AA66D2AE5C576FF594248D
http://purl.uniprot.org/uniprot/#_Q9CV93-mappedCitation-36111525
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/458DEE019E467CC295DBC8527D8831F59AE3CDEF43DDC7A80EB33FADF68F643F1BC423CAB1AA66D2AE5C576FF594248D