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DESCRIBE <http://purl.uniprot.org/SHA-384/D6F570BD22D30846BA4D750EA936D5E4CC0FB5928D556D4B078F303DA7D715D448395D15FBFD6CB8C31CF33B4CA529A6>
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http://purl.uniprot.org/SHA-384/D6F570BD22D30846BA4D750EA936D5E4CC0FB5928D556D4B078F303DA7D715D448395D15FBFD6CB8C31CF33B4CA529A6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D6F570BD22D30846BA4D750EA936D5E4CC0FB5928D556D4B078F303DA7D715D448395D15FBFD6CB8C31CF33B4CA529A6
http://www.w3.org/2000/01/rdf-schema#comment
"data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype and provide evidence that TBC1D1 mutations may contribute to CAKUT"
xsd:string
http://purl.uniprot.org/uniprot/#_3D3CA076E198035EC3E04A4F3C2031B7B2362990F40F2025BB942E3A080F2CD582E018190459D207C005EF06ED7D5B23
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D6F570BD22D30846BA4D750EA936D5E4CC0FB5928D556D4B078F303DA7D715D448395D15FBFD6CB8C31CF33B4CA529A6
http://purl.uniprot.org/uniprot/Q6PJJ8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D6F570BD22D30846BA4D750EA936D5E4CC0FB5928D556D4B078F303DA7D715D448395D15FBFD6CB8C31CF33B4CA529A6
http://purl.uniprot.org/uniprot/#_Q6PJJ8-mappedCitation-26572137
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D6F570BD22D30846BA4D750EA936D5E4CC0FB5928D556D4B078F303DA7D715D448395D15FBFD6CB8C31CF33B4CA529A6