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DESCRIBE <http://purl.uniprot.org/SHA-384/227C142C58219765BA67FB6756AC31CE99B70EB31BE38DC7BA0F7663AF6B7EB2C91A2A464F32513F7F2999A131E9277E>
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http://purl.uniprot.org/SHA-384/227C142C58219765BA67FB6756AC31CE99B70EB31BE38DC7BA0F7663AF6B7EB2C91A2A464F32513F7F2999A131E9277E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/227C142C58219765BA67FB6756AC31CE99B70EB31BE38DC7BA0F7663AF6B7EB2C91A2A464F32513F7F2999A131E9277E
http://www.w3.org/2000/01/rdf-schema#comment
"sequenced the exomes of six unrelated individuals with Hajdu-Cheney syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them; Mutations in NOTCH2 are a major cause of Hajdu-Cheney syndrome"
xsd:string
http://purl.uniprot.org/uniprot/#_FC6E7E92E5D8CFF0D8D9B5794FD8E07CE5CCCDBD6D7CA7ADD4D8F059FFF41601CFD90D8B9CA55449BC19FA49A4225D25
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/227C142C58219765BA67FB6756AC31CE99B70EB31BE38DC7BA0F7663AF6B7EB2C91A2A464F32513F7F2999A131E9277E
http://purl.uniprot.org/uniprot/Q6IQ50
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/227C142C58219765BA67FB6756AC31CE99B70EB31BE38DC7BA0F7663AF6B7EB2C91A2A464F32513F7F2999A131E9277E
http://purl.uniprot.org/uniprot/#_Q6IQ50-mappedCitation-21378989
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/227C142C58219765BA67FB6756AC31CE99B70EB31BE38DC7BA0F7663AF6B7EB2C91A2A464F32513F7F2999A131E9277E