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DESCRIBE <http://purl.uniprot.org/SHA-384/BE62C8F510C3B1CE179B7774B34B87B4E68C14761D6CEE3CCB2AEBD5F8E042497FEB19321CC9912A3591AB94312D89D8>
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http://purl.uniprot.org/SHA-384/BE62C8F510C3B1CE179B7774B34B87B4E68C14761D6CEE3CCB2AEBD5F8E042497FEB19321CC9912A3591AB94312D89D8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BE62C8F510C3B1CE179B7774B34B87B4E68C14761D6CEE3CCB2AEBD5F8E042497FEB19321CC9912A3591AB94312D89D8
http://www.w3.org/2000/01/rdf-schema#comment
"Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency."
xsd:string
http://purl.uniprot.org/uniprot/#_D70B56364D662335CEC8A25737B70660DBCB4F36D682D7386193F48B4427027C7F5B3A2DE6CED85BB4E7386119247711
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BE62C8F510C3B1CE179B7774B34B87B4E68C14761D6CEE3CCB2AEBD5F8E042497FEB19321CC9912A3591AB94312D89D8
http://purl.uniprot.org/uniprot/Q8IUX1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BE62C8F510C3B1CE179B7774B34B87B4E68C14761D6CEE3CCB2AEBD5F8E042497FEB19321CC9912A3591AB94312D89D8
http://purl.uniprot.org/uniprot/#_Q8IUX1-mappedCitation-36482121
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BE62C8F510C3B1CE179B7774B34B87B4E68C14761D6CEE3CCB2AEBD5F8E042497FEB19321CC9912A3591AB94312D89D8