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DESCRIBE <http://purl.uniprot.org/SHA-384/C989789A3911BD88F4BA488E51D501D218399AF2FFACC2AF660B57C3428C69BF2CE093B8C08DF57DB1E4F337F26B55C7>
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http://purl.uniprot.org/SHA-384/C989789A3911BD88F4BA488E51D501D218399AF2FFACC2AF660B57C3428C69BF2CE093B8C08DF57DB1E4F337F26B55C7
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C989789A3911BD88F4BA488E51D501D218399AF2FFACC2AF660B57C3428C69BF2CE093B8C08DF57DB1E4F337F26B55C7
http://www.w3.org/2000/01/rdf-schema#comment
"Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy macular atrophy cataracts and high myopia."
xsd:string
http://purl.uniprot.org/uniprot/#_3D388019717253A7FBCCE2CF5E196E4FF7CF2BFF0BCA66666E65CD143F0E57F604974801D7F6B2E3960117CF73CEA4F6
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C989789A3911BD88F4BA488E51D501D218399AF2FFACC2AF660B57C3428C69BF2CE093B8C08DF57DB1E4F337F26B55C7
http://purl.uniprot.org/uniprot/Q96NL8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C989789A3911BD88F4BA488E51D501D218399AF2FFACC2AF660B57C3428C69BF2CE093B8C08DF57DB1E4F337F26B55C7
http://purl.uniprot.org/uniprot/#_Q96NL8-mappedCitation-25113443
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C989789A3911BD88F4BA488E51D501D218399AF2FFACC2AF660B57C3428C69BF2CE093B8C08DF57DB1E4F337F26B55C7