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DESCRIBE <http://purl.uniprot.org/SHA-384/0D678FFDE7C467726486585CC6AF0C04BE69F0580BBB8B67C95F77EC53A6941D12278DA9EECD4DFF3C66FACF8110E38F>
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http://purl.uniprot.org/SHA-384/0D678FFDE7C467726486585CC6AF0C04BE69F0580BBB8B67C95F77EC53A6941D12278DA9EECD4DFF3C66FACF8110E38F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0D678FFDE7C467726486585CC6AF0C04BE69F0580BBB8B67C95F77EC53A6941D12278DA9EECD4DFF3C66FACF8110E38F
http://www.w3.org/2000/01/rdf-schema#comment
"Report NPHP1 mutations in nephronophthisis and associated ciliopathies and Joubert syndrome-related disorders."
xsd:string
http://purl.uniprot.org/uniprot/#_040745AE1C87990C9F6F215633DB452F58B18E488540A29850B31B41E85B08EF8CC23B54971E9DBD1BDCAA4C59B21830
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0D678FFDE7C467726486585CC6AF0C04BE69F0580BBB8B67C95F77EC53A6941D12278DA9EECD4DFF3C66FACF8110E38F
http://purl.uniprot.org/uniprot/O15259
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0D678FFDE7C467726486585CC6AF0C04BE69F0580BBB8B67C95F77EC53A6941D12278DA9EECD4DFF3C66FACF8110E38F
http://purl.uniprot.org/uniprot/#_O15259-mappedCitation-22982934
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0D678FFDE7C467726486585CC6AF0C04BE69F0580BBB8B67C95F77EC53A6941D12278DA9EECD4DFF3C66FACF8110E38F