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DESCRIBE <http://purl.uniprot.org/SHA-384/31AE8AEFB21FB9EAC6A49BFFC038EDBF5E0DE59A160423F1ABBFD114A092B62FD126CB4B77936FDB444ABE5362442777>
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http://purl.uniprot.org/SHA-384/31AE8AEFB21FB9EAC6A49BFFC038EDBF5E0DE59A160423F1ABBFD114A092B62FD126CB4B77936FDB444ABE5362442777
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/31AE8AEFB21FB9EAC6A49BFFC038EDBF5E0DE59A160423F1ABBFD114A092B62FD126CB4B77936FDB444ABE5362442777
http://www.w3.org/2000/01/rdf-schema#comment
"This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion."
xsd:string
http://purl.uniprot.org/uniprot/#_7E7EC34F6FBCD1CC2E18F538B60F89826F404BA6B814CE1FB7C193D90440AC6FD63B7C01ED42944BBFCE69EB205456B0
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/31AE8AEFB21FB9EAC6A49BFFC038EDBF5E0DE59A160423F1ABBFD114A092B62FD126CB4B77936FDB444ABE5362442777
http://purl.uniprot.org/uniprot/E5KS15
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/31AE8AEFB21FB9EAC6A49BFFC038EDBF5E0DE59A160423F1ABBFD114A092B62FD126CB4B77936FDB444ABE5362442777
http://purl.uniprot.org/uniprot/#_E5KS15-mappedCitation-27592148
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/31AE8AEFB21FB9EAC6A49BFFC038EDBF5E0DE59A160423F1ABBFD114A092B62FD126CB4B77936FDB444ABE5362442777