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DESCRIBE <http://purl.uniprot.org/SHA-384/684ABF8C87DA6CD1DB09F27822634FAA517259EF03D62F4575F5E6FCE1CEAFE024A53C26E790AD6736E8089EA407A9D1>
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http://purl.uniprot.org/SHA-384/684ABF8C87DA6CD1DB09F27822634FAA517259EF03D62F4575F5E6FCE1CEAFE024A53C26E790AD6736E8089EA407A9D1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/684ABF8C87DA6CD1DB09F27822634FAA517259EF03D62F4575F5E6FCE1CEAFE024A53C26E790AD6736E8089EA407A9D1
http://www.w3.org/2000/01/rdf-schema#comment
"We have demonstrated that mutations in KPTN encoding kaptin cause a syndrome typified by macrocephaly neurodevelopmental delay and seizures."
xsd:string
http://purl.uniprot.org/uniprot/#_C0FDD136C935127FC39E4D7AF78FF2770C1CD9D17C3B4EC36156260180CF5B791C18B8FD6EEBF310456CA30703D8BE2B
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/684ABF8C87DA6CD1DB09F27822634FAA517259EF03D62F4575F5E6FCE1CEAFE024A53C26E790AD6736E8089EA407A9D1
http://purl.uniprot.org/uniprot/A0A384NLB4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/684ABF8C87DA6CD1DB09F27822634FAA517259EF03D62F4575F5E6FCE1CEAFE024A53C26E790AD6736E8089EA407A9D1
http://purl.uniprot.org/uniprot/#_A0A384NLB4-mappedCitation-24239382
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/684ABF8C87DA6CD1DB09F27822634FAA517259EF03D62F4575F5E6FCE1CEAFE024A53C26E790AD6736E8089EA407A9D1