SPARQL
Downloads
Documentation/Help
Skip Header
Results
Your Query
Add common prefixes
DESCRIBE <http://purl.uniprot.org/SHA-384/041DAC34B2129AA079318CC7AA718B87D9247EEFBE15D7AEFD5474C9C05BB8D09C829AE0E7626975546DC8FE56814478>
Submit Query
Cancel
RDF/XML
NTriples
Turtle
Show query
Share
Subject
Predicate
Object
http://purl.uniprot.org/SHA-384/041DAC34B2129AA079318CC7AA718B87D9247EEFBE15D7AEFD5474C9C05BB8D09C829AE0E7626975546DC8FE56814478
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/041DAC34B2129AA079318CC7AA718B87D9247EEFBE15D7AEFD5474C9C05BB8D09C829AE0E7626975546DC8FE56814478
http://www.w3.org/2000/01/rdf-schema#comment
"Importantly one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1 respectively)."
xsd:string
http://purl.uniprot.org/uniprot/#_24D3DE198E1446714FCD48BA80833C215DD1DAE133BD9C87E5E3D4CB0D846333DDDB67A84D0F12A5538B48DCCF15ED69
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/041DAC34B2129AA079318CC7AA718B87D9247EEFBE15D7AEFD5474C9C05BB8D09C829AE0E7626975546DC8FE56814478
http://purl.uniprot.org/uniprot/A0A0S2Z611
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/041DAC34B2129AA079318CC7AA718B87D9247EEFBE15D7AEFD5474C9C05BB8D09C829AE0E7626975546DC8FE56814478
http://purl.uniprot.org/uniprot/#_A0A0S2Z611-mappedCitation-27434533
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/041DAC34B2129AA079318CC7AA718B87D9247EEFBE15D7AEFD5474C9C05BB8D09C829AE0E7626975546DC8FE56814478