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DESCRIBE <http://purl.uniprot.org/SHA-384/75DCBDE0A4C5AC9D6CD6F5CA388EE5E71A4F674E7229BD2B3FE2013AF6354519DC910A811E92828F6123C4B524388D55>
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http://purl.uniprot.org/SHA-384/75DCBDE0A4C5AC9D6CD6F5CA388EE5E71A4F674E7229BD2B3FE2013AF6354519DC910A811E92828F6123C4B524388D55
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/75DCBDE0A4C5AC9D6CD6F5CA388EE5E71A4F674E7229BD2B3FE2013AF6354519DC910A811E92828F6123C4B524388D55
http://www.w3.org/2000/01/rdf-schema#comment
"We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral microphthalmia cataract and retinal aplasia."
xsd:string
http://purl.uniprot.org/uniprot/#_1795F3351E4DB888FE6B0D5DCE13C8E93439D8FA4CF88325660AE7FBABB9E766DFD7525C4FD72D73FD7899C9F76F7FC1
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/75DCBDE0A4C5AC9D6CD6F5CA388EE5E71A4F674E7229BD2B3FE2013AF6354519DC910A811E92828F6123C4B524388D55
http://purl.uniprot.org/uniprot/O60315
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/75DCBDE0A4C5AC9D6CD6F5CA388EE5E71A4F674E7229BD2B3FE2013AF6354519DC910A811E92828F6123C4B524388D55
http://purl.uniprot.org/uniprot/#_O60315-mappedCitation-22486326
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/75DCBDE0A4C5AC9D6CD6F5CA388EE5E71A4F674E7229BD2B3FE2013AF6354519DC910A811E92828F6123C4B524388D55