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DESCRIBE <http://purl.uniprot.org/SHA-384/0A734A039915EBB04713464B329AB7A0907491B131CFB72B60C5B9F0CC1983743E35E3A8395AA3A11F186515C4F010CE>
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http://purl.uniprot.org/SHA-384/0A734A039915EBB04713464B329AB7A0907491B131CFB72B60C5B9F0CC1983743E35E3A8395AA3A11F186515C4F010CE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0A734A039915EBB04713464B329AB7A0907491B131CFB72B60C5B9F0CC1983743E35E3A8395AA3A11F186515C4F010CE
http://www.w3.org/2000/01/rdf-schema#comment
"Authors identified a missense change in LOXHD1. Data implicate rare alleles in LOXHD1 in the pathogenesis of FCD and highlight how different mutations in the same locus can potentially produce diverse phenotypes."
xsd:string
http://purl.uniprot.org/uniprot/#_F6411DC425048071D4CFEB75A44435C0D3906092DD9D4F3F38511331BD956B96DA51CB32E059345E9EAB04A82805871F
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0A734A039915EBB04713464B329AB7A0907491B131CFB72B60C5B9F0CC1983743E35E3A8395AA3A11F186515C4F010CE
http://purl.uniprot.org/uniprot/Q8IVV2
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0A734A039915EBB04713464B329AB7A0907491B131CFB72B60C5B9F0CC1983743E35E3A8395AA3A11F186515C4F010CE
http://purl.uniprot.org/uniprot/#_Q8IVV2-mappedCitation-22341973
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0A734A039915EBB04713464B329AB7A0907491B131CFB72B60C5B9F0CC1983743E35E3A8395AA3A11F186515C4F010CE