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DESCRIBE <http://purl.uniprot.org/SHA-384/F38810E1E5D9EF9C341E77EBB95E033DCF6CA3B28E9CE7F2224083AC8025C99E2AB2CCF5CB2EF9F966BE514450F00987>
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http://purl.uniprot.org/SHA-384/F38810E1E5D9EF9C341E77EBB95E033DCF6CA3B28E9CE7F2224083AC8025C99E2AB2CCF5CB2EF9F966BE514450F00987
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/F38810E1E5D9EF9C341E77EBB95E033DCF6CA3B28E9CE7F2224083AC8025C99E2AB2CCF5CB2EF9F966BE514450F00987
http://www.w3.org/2000/01/rdf-schema#comment
"Data indicate splice-acceptor site homozygous mutation in intron 4 of microcephalin (MCPH1) gene in 2 children."
xsd:string
http://purl.uniprot.org/uniprot/#_E6D349EE8CD0E384452DBBE52F22E5402D05E25686498CB56392BF696804D2AE3CD33207BD64D8A12FD63B7F4B8830B4
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/F38810E1E5D9EF9C341E77EBB95E033DCF6CA3B28E9CE7F2224083AC8025C99E2AB2CCF5CB2EF9F966BE514450F00987
http://purl.uniprot.org/uniprot/Q6RBJ2
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F38810E1E5D9EF9C341E77EBB95E033DCF6CA3B28E9CE7F2224083AC8025C99E2AB2CCF5CB2EF9F966BE514450F00987
http://purl.uniprot.org/uniprot/#_Q6RBJ2-mappedCitation-26192461
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F38810E1E5D9EF9C341E77EBB95E033DCF6CA3B28E9CE7F2224083AC8025C99E2AB2CCF5CB2EF9F966BE514450F00987