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DESCRIBE <http://purl.uniprot.org/SHA-384/FB8ADA4D2FBC0CEC56E2ED4FB3078ACB907076C1089454343B5DC896E6E878512C760ADAFDF7F0EA76D4587CBEAD42EE>
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http://purl.uniprot.org/SHA-384/FB8ADA4D2FBC0CEC56E2ED4FB3078ACB907076C1089454343B5DC896E6E878512C760ADAFDF7F0EA76D4587CBEAD42EE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FB8ADA4D2FBC0CEC56E2ED4FB3078ACB907076C1089454343B5DC896E6E878512C760ADAFDF7F0EA76D4587CBEAD42EE
http://www.w3.org/2000/01/rdf-schema#comment
"Mutation analysis revealed the presence of disease-causing variants in PYCR1 including a novel deletion of the entire PYCR1 gene in one family and in each of the other patients the homozygous missense mutations."
xsd:string
http://purl.uniprot.org/uniprot/#_AA45B36722B536F86638495F11E4249867CD2E8FD56D3DFF84FFC721E66820B6252AC7A04EAF7B3D0ED0E4712F5E22D4
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FB8ADA4D2FBC0CEC56E2ED4FB3078ACB907076C1089454343B5DC896E6E878512C760ADAFDF7F0EA76D4587CBEAD42EE
http://purl.uniprot.org/uniprot/A0A1B2JLU7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FB8ADA4D2FBC0CEC56E2ED4FB3078ACB907076C1089454343B5DC896E6E878512C760ADAFDF7F0EA76D4587CBEAD42EE
http://purl.uniprot.org/uniprot/#_A0A1B2JLU7-mappedCitation-21487760
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FB8ADA4D2FBC0CEC56E2ED4FB3078ACB907076C1089454343B5DC896E6E878512C760ADAFDF7F0EA76D4587CBEAD42EE