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DESCRIBE <http://purl.uniprot.org/SHA-384/C127EF572755A429BBA49008D1C17607BFBBEECF09D9BA438EC01C705CC8FC441CECFCDE8522C3423C138D62CA5AC772>
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http://purl.uniprot.org/SHA-384/C127EF572755A429BBA49008D1C17607BFBBEECF09D9BA438EC01C705CC8FC441CECFCDE8522C3423C138D62CA5AC772
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C127EF572755A429BBA49008D1C17607BFBBEECF09D9BA438EC01C705CC8FC441CECFCDE8522C3423C138D62CA5AC772
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/#_F297FA9BE0A11A970B89447DB319DDA44223BEA99F780E31C671BE67F9D6AD169B9B639C13B92E3F5B8C97B45D9CBC0D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C127EF572755A429BBA49008D1C17607BFBBEECF09D9BA438EC01C705CC8FC441CECFCDE8522C3423C138D62CA5AC772
http://purl.uniprot.org/uniprot/Q6RAZ4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C127EF572755A429BBA49008D1C17607BFBBEECF09D9BA438EC01C705CC8FC441CECFCDE8522C3423C138D62CA5AC772
http://purl.uniprot.org/uniprot/#_Q6RAZ4-mappedCitation-26192461
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C127EF572755A429BBA49008D1C17607BFBBEECF09D9BA438EC01C705CC8FC441CECFCDE8522C3423C138D62CA5AC772