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DESCRIBE <http://purl.uniprot.org/SHA-384/EBB09A79735C7E36AC1101E9EDCEB1134E8FE8173C63FF0BECA76E14EF5051F5EEBF1C2A8C1EA5B8DFB6660A9161B237>
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http://purl.uniprot.org/SHA-384/EBB09A79735C7E36AC1101E9EDCEB1134E8FE8173C63FF0BECA76E14EF5051F5EEBF1C2A8C1EA5B8DFB6660A9161B237
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/EBB09A79735C7E36AC1101E9EDCEB1134E8FE8173C63FF0BECA76E14EF5051F5EEBF1C2A8C1EA5B8DFB6660A9161B237
http://www.w3.org/2000/01/rdf-schema#comment
"These results strongly suggest that haploinsufficiency of MEF2C is responsible for severe mental retardation with stereotypic movements seizures and/or cerebral malformations."
xsd:string
http://purl.uniprot.org/uniprot/#_A36D5F943DDC9A89CC052647783A97E94B59B43832F2B27448A3ACAACAF65D98116EAD64123EFD1C481CAF4CEF7CCD30
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/EBB09A79735C7E36AC1101E9EDCEB1134E8FE8173C63FF0BECA76E14EF5051F5EEBF1C2A8C1EA5B8DFB6660A9161B237
http://purl.uniprot.org/uniprot/A0A0D9SFD0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EBB09A79735C7E36AC1101E9EDCEB1134E8FE8173C63FF0BECA76E14EF5051F5EEBF1C2A8C1EA5B8DFB6660A9161B237
http://purl.uniprot.org/uniprot/#_A0A0D9SFD0-mappedCitation-19592390
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EBB09A79735C7E36AC1101E9EDCEB1134E8FE8173C63FF0BECA76E14EF5051F5EEBF1C2A8C1EA5B8DFB6660A9161B237