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DESCRIBE <http://purl.uniprot.org/SHA-384/B7284377D6B436D18DFA32D010967AFA27D16BF391545CDB1936C6F705DC35EF28AA300849F92A560B731F784B7BBD27>
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http://purl.uniprot.org/SHA-384/B7284377D6B436D18DFA32D010967AFA27D16BF391545CDB1936C6F705DC35EF28AA300849F92A560B731F784B7BBD27
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/B7284377D6B436D18DFA32D010967AFA27D16BF391545CDB1936C6F705DC35EF28AA300849F92A560B731F784B7BBD27
http://www.w3.org/2000/01/rdf-schema#comment
"By using whole-exome sequencing analysis three RPE65 mutations were identified in two Japanese patients with leber congenital amaurosis (LCA). This approach would be useful for identification of disease-causing mutations of LCA."
xsd:string
http://purl.uniprot.org/uniprot/#_D73C704A2D24500EFCB28CE153EAE1024DEB5B4D29D4337C303E12E8FE0E51DFEFCBE6D7019E115850A7A02281FC28E1
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/B7284377D6B436D18DFA32D010967AFA27D16BF391545CDB1936C6F705DC35EF28AA300849F92A560B731F784B7BBD27
http://purl.uniprot.org/uniprot/Q16518
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B7284377D6B436D18DFA32D010967AFA27D16BF391545CDB1936C6F705DC35EF28AA300849F92A560B731F784B7BBD27
http://purl.uniprot.org/uniprot/#_Q16518-mappedCitation-25495949
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B7284377D6B436D18DFA32D010967AFA27D16BF391545CDB1936C6F705DC35EF28AA300849F92A560B731F784B7BBD27