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DESCRIBE <http://purl.uniprot.org/SHA-384/3AABAF6C60E1ADD80AB6907F6CF2607909B9532636CEA53098CF7C2D9DB8951B4F0E9A7A91CC15EB623EB195B690D85D>
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http://purl.uniprot.org/SHA-384/3AABAF6C60E1ADD80AB6907F6CF2607909B9532636CEA53098CF7C2D9DB8951B4F0E9A7A91CC15EB623EB195B690D85D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3AABAF6C60E1ADD80AB6907F6CF2607909B9532636CEA53098CF7C2D9DB8951B4F0E9A7A91CC15EB623EB195B690D85D
http://www.w3.org/2000/01/rdf-schema#comment
"De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_AA35CFFC0EF7E9D4C506582A7576B2A60958167FAA36F9C5D4753A72078C41A72BCC52F4D4D000D65C7857B61412D667
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3AABAF6C60E1ADD80AB6907F6CF2607909B9532636CEA53098CF7C2D9DB8951B4F0E9A7A91CC15EB623EB195B690D85D
http://purl.uniprot.org/uniprot/F6VDE0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3AABAF6C60E1ADD80AB6907F6CF2607909B9532636CEA53098CF7C2D9DB8951B4F0E9A7A91CC15EB623EB195B690D85D
http://purl.uniprot.org/uniprot/#_F6VDE0-mappedCitation-32694869
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3AABAF6C60E1ADD80AB6907F6CF2607909B9532636CEA53098CF7C2D9DB8951B4F0E9A7A91CC15EB623EB195B690D85D