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DESCRIBE <http://purl.uniprot.org/SHA-384/91BBBBD43101697C84D4F3A257546BF7C26F60938C12F1234F2F775138F0C7158335EE86ECEB11CE2ED8C1E066B108F9>
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http://purl.uniprot.org/SHA-384/91BBBBD43101697C84D4F3A257546BF7C26F60938C12F1234F2F775138F0C7158335EE86ECEB11CE2ED8C1E066B108F9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/91BBBBD43101697C84D4F3A257546BF7C26F60938C12F1234F2F775138F0C7158335EE86ECEB11CE2ED8C1E066B108F9
http://www.w3.org/2000/01/rdf-schema#comment
"Heterozygous termination codon mutation of NR1H4 R176X was found in idiopathic infantile cholestasis. This novel mutation is useful to establish differential diagnosis of and prognosis for idiopathic infantile cholestasis."
xsd:string
http://purl.uniprot.org/uniprot/#_11C3F1639D179888F28A156E824DA01222E5DEB7D0A6C83C427A29C61523DDAA5DA3D1C0BF8EC1E5FD9F23737AF3BBA7
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/91BBBBD43101697C84D4F3A257546BF7C26F60938C12F1234F2F775138F0C7158335EE86ECEB11CE2ED8C1E066B108F9
http://purl.uniprot.org/uniprot/B7Z423
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/91BBBBD43101697C84D4F3A257546BF7C26F60938C12F1234F2F775138F0C7158335EE86ECEB11CE2ED8C1E066B108F9
http://purl.uniprot.org/uniprot/#_B7Z423-mappedCitation-21633855
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/91BBBBD43101697C84D4F3A257546BF7C26F60938C12F1234F2F775138F0C7158335EE86ECEB11CE2ED8C1E066B108F9