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DESCRIBE <http://purl.uniprot.org/SHA-384/9C6BFB7810354AAC399C6515EA77DD14A8B09114B2EC718A0D222F2CD7E8D08BD1A5B3FB108ECA05130BF3B043B382EB>
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http://purl.uniprot.org/SHA-384/9C6BFB7810354AAC399C6515EA77DD14A8B09114B2EC718A0D222F2CD7E8D08BD1A5B3FB108ECA05130BF3B043B382EB
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/9C6BFB7810354AAC399C6515EA77DD14A8B09114B2EC718A0D222F2CD7E8D08BD1A5B3FB108ECA05130BF3B043B382EB
http://www.w3.org/2000/01/rdf-schema#comment
"These findings implicate mTORC1 dysregulation through a gain-of-function mutation in RagC as a novel molecular basis for syndromic forms of pediatric heart failure and expand genotype-phenotype correlation in RASopathy-related syndromes"
xsd:string
http://purl.uniprot.org/uniprot/#_0B2C4260311D5A7CEEBF87BB203D3234A3B951B8875ADB35C6357173B4C332D0FF0E8502FFCF506991F3006F0D237070
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/9C6BFB7810354AAC399C6515EA77DD14A8B09114B2EC718A0D222F2CD7E8D08BD1A5B3FB108ECA05130BF3B043B382EB
http://purl.uniprot.org/uniprot/B4DQ03
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/9C6BFB7810354AAC399C6515EA77DD14A8B09114B2EC718A0D222F2CD7E8D08BD1A5B3FB108ECA05130BF3B043B382EB
http://purl.uniprot.org/uniprot/#_B4DQ03-mappedCitation-27234373
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/9C6BFB7810354AAC399C6515EA77DD14A8B09114B2EC718A0D222F2CD7E8D08BD1A5B3FB108ECA05130BF3B043B382EB