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DESCRIBE <http://purl.uniprot.org/SHA-384/D95ACB9DDAB7EFABAE667B0DC7719333F3D0C301272F41ADBFF1E154E56E3ACB659E12A2DF9475123DFCE6FDCC6A74D5>
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http://purl.uniprot.org/SHA-384/D95ACB9DDAB7EFABAE667B0DC7719333F3D0C301272F41ADBFF1E154E56E3ACB659E12A2DF9475123DFCE6FDCC6A74D5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D95ACB9DDAB7EFABAE667B0DC7719333F3D0C301272F41ADBFF1E154E56E3ACB659E12A2DF9475123DFCE6FDCC6A74D5
http://www.w3.org/2000/01/rdf-schema#comment
"In this study whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in four MIOP-related genes (CLCN7 TCIRG1 SNX10 and TNFRSF11A)."
xsd:string
http://purl.uniprot.org/uniprot/#_D5AB3D5C269A43C8484AA6D0D9FF4AFF12B8420A45362FC26286FD21180199F269CF8E1BC26EA5AB4EA1816C7132F9F4
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D95ACB9DDAB7EFABAE667B0DC7719333F3D0C301272F41ADBFF1E154E56E3ACB659E12A2DF9475123DFCE6FDCC6A74D5
http://purl.uniprot.org/uniprot/B3KVJ8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D95ACB9DDAB7EFABAE667B0DC7719333F3D0C301272F41ADBFF1E154E56E3ACB659E12A2DF9475123DFCE6FDCC6A74D5
http://purl.uniprot.org/uniprot/#_B3KVJ8-mappedCitation-27187610
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D95ACB9DDAB7EFABAE667B0DC7719333F3D0C301272F41ADBFF1E154E56E3ACB659E12A2DF9475123DFCE6FDCC6A74D5