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DESCRIBE <http://purl.uniprot.org/SHA-384/A0590E19D0902C8278A06B9BFCAFC8ADBE6C8879BD66AE8E39E8A92DE59662E3B78CFA979210D19A046E7DBD484E0157>
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http://purl.uniprot.org/SHA-384/A0590E19D0902C8278A06B9BFCAFC8ADBE6C8879BD66AE8E39E8A92DE59662E3B78CFA979210D19A046E7DBD484E0157
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/A0590E19D0902C8278A06B9BFCAFC8ADBE6C8879BD66AE8E39E8A92DE59662E3B78CFA979210D19A046E7DBD484E0157
http://www.w3.org/2000/01/rdf-schema#comment
"mutation analysis of TMEM67 in Joubert syndrome and related disorders cases and Meckel syndrome fetuses; identification of 20 novel mutations; review of published mutations and discussion of genotype-phenotype correlates"
xsd:string
http://purl.uniprot.org/uniprot/#_4891D800BF9FF86BDF5ADCDF3403CEB37FF6AD46615B4BD06D82520595252FCE8E93219F5E201F260D61997D0A40A51D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/A0590E19D0902C8278A06B9BFCAFC8ADBE6C8879BD66AE8E39E8A92DE59662E3B78CFA979210D19A046E7DBD484E0157
http://purl.uniprot.org/uniprot/A0A0S2Z5T9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A0590E19D0902C8278A06B9BFCAFC8ADBE6C8879BD66AE8E39E8A92DE59662E3B78CFA979210D19A046E7DBD484E0157
http://purl.uniprot.org/uniprot/#_A0A0S2Z5T9-mappedCitation-20232449
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A0590E19D0902C8278A06B9BFCAFC8ADBE6C8879BD66AE8E39E8A92DE59662E3B78CFA979210D19A046E7DBD484E0157