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DESCRIBE <http://purl.uniprot.org/SHA-384/3512B8AA16FB2BA3292BDD6E5499951F4A9C18FF62A813C2E0E9FCD23E36F52487ADAA6CB000A625B0C3A8CC3C1B8256>
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http://purl.uniprot.org/SHA-384/3512B8AA16FB2BA3292BDD6E5499951F4A9C18FF62A813C2E0E9FCD23E36F52487ADAA6CB000A625B0C3A8CC3C1B8256
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3512B8AA16FB2BA3292BDD6E5499951F4A9C18FF62A813C2E0E9FCD23E36F52487ADAA6CB000A625B0C3A8CC3C1B8256
http://www.w3.org/2000/01/rdf-schema#comment
"Frameshift mutation in the RAB27A gene is associated with seizures and neurological compromise in patient 1 and pancytopenia and diarrhea in patient 2."
xsd:string
http://purl.uniprot.org/uniprot/#_8BB347F2CEF0080EAEF11588E4B6B1A91865339288C656CB2A6FDB8D15F209370A830B69F52935C64B83F9B920DEB71A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3512B8AA16FB2BA3292BDD6E5499951F4A9C18FF62A813C2E0E9FCD23E36F52487ADAA6CB000A625B0C3A8CC3C1B8256
http://purl.uniprot.org/uniprot/A2RU94
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3512B8AA16FB2BA3292BDD6E5499951F4A9C18FF62A813C2E0E9FCD23E36F52487ADAA6CB000A625B0C3A8CC3C1B8256
http://purl.uniprot.org/uniprot/#_A2RU94-mappedCitation-31233462
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3512B8AA16FB2BA3292BDD6E5499951F4A9C18FF62A813C2E0E9FCD23E36F52487ADAA6CB000A625B0C3A8CC3C1B8256