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DESCRIBE <http://purl.uniprot.org/SHA-384/90EE189CC38BE302764C678012DDF324E454537437D26719620C0D4D08FCCC8A6179F2D8AB759D971A4536195B4B3C3D>
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http://purl.uniprot.org/SHA-384/90EE189CC38BE302764C678012DDF324E454537437D26719620C0D4D08FCCC8A6179F2D8AB759D971A4536195B4B3C3D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/90EE189CC38BE302764C678012DDF324E454537437D26719620C0D4D08FCCC8A6179F2D8AB759D971A4536195B4B3C3D
http://www.w3.org/2000/01/rdf-schema#comment
"A novel mutation in GJA8 was detected in a Chinese family with autosomal dominant congenital nuclear cataract providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype."
xsd:string
http://purl.uniprot.org/uniprot/#_0E8E3FFD1685AF8A84EF8F41996E85E54BDE3680388A779CF568DA48CC72B183614FFBF1DE15F82EBC468E0F0BA18D63
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/90EE189CC38BE302764C678012DDF324E454537437D26719620C0D4D08FCCC8A6179F2D8AB759D971A4536195B4B3C3D
http://purl.uniprot.org/uniprot/A0A097IW98
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/90EE189CC38BE302764C678012DDF324E454537437D26719620C0D4D08FCCC8A6179F2D8AB759D971A4536195B4B3C3D
http://purl.uniprot.org/uniprot/#_A0A097IW98-mappedCitation-20019893
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/90EE189CC38BE302764C678012DDF324E454537437D26719620C0D4D08FCCC8A6179F2D8AB759D971A4536195B4B3C3D