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DESCRIBE <http://purl.uniprot.org/SHA-384/74855542D092A8FE1E2589FA3EE8C49EBD66DE960D4C991E4760952567B1FEF21596D5D248FB4A51B3339FD3A604B559>
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http://purl.uniprot.org/SHA-384/74855542D092A8FE1E2589FA3EE8C49EBD66DE960D4C991E4760952567B1FEF21596D5D248FB4A51B3339FD3A604B559
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/74855542D092A8FE1E2589FA3EE8C49EBD66DE960D4C991E4760952567B1FEF21596D5D248FB4A51B3339FD3A604B559
http://www.w3.org/2000/01/rdf-schema#comment
"A novel heterozygous missense mutation c.761C
xsd:string
http://purl.uniprot.org/uniprot/#_4B83E06519B43427CED44ABAAA35210BB74380E06FD23D85659A862E23ED7AD9AEC940809771535FC5919B62A17D9DC8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/74855542D092A8FE1E2589FA3EE8C49EBD66DE960D4C991E4760952567B1FEF21596D5D248FB4A51B3339FD3A604B559
http://purl.uniprot.org/uniprot/Q99972
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/74855542D092A8FE1E2589FA3EE8C49EBD66DE960D4C991E4760952567B1FEF21596D5D248FB4A51B3339FD3A604B559
http://purl.uniprot.org/uniprot/#_Q99972-mappedCitation-26095806
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/74855542D092A8FE1E2589FA3EE8C49EBD66DE960D4C991E4760952567B1FEF21596D5D248FB4A51B3339FD3A604B559