SPARQL
Downloads
Documentation/Help
Skip Header
Results
Your Query
Add common prefixes
DESCRIBE <http://purl.uniprot.org/SHA-384/2147E933A749833E5BE25476B1FB1C4BE43876387051A4D1EC324C9A1F623D75FE72E1469BAB87D4FE359826F6789D2F>
Submit Query
Cancel
RDF/XML
NTriples
Turtle
Show query
Share
Subject
Predicate
Object
http://purl.uniprot.org/SHA-384/2147E933A749833E5BE25476B1FB1C4BE43876387051A4D1EC324C9A1F623D75FE72E1469BAB87D4FE359826F6789D2F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/2147E933A749833E5BE25476B1FB1C4BE43876387051A4D1EC324C9A1F623D75FE72E1469BAB87D4FE359826F6789D2F
http://www.w3.org/2000/01/rdf-schema#comment
"One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene while the second patient had a homozygous mutation in the POLG gene [c.1399G>A; p.Ala467Thr]."
xsd:string
http://purl.uniprot.org/uniprot/#_2C3BAD47BFCE98F84F54909CA73221ED3A1675BDAEB6BB102AD2A659115B2B9D550B674EC179224F3D5413B108E160C1
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/2147E933A749833E5BE25476B1FB1C4BE43876387051A4D1EC324C9A1F623D75FE72E1469BAB87D4FE359826F6789D2F
http://purl.uniprot.org/uniprot/E5KNU5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2147E933A749833E5BE25476B1FB1C4BE43876387051A4D1EC324C9A1F623D75FE72E1469BAB87D4FE359826F6789D2F
http://purl.uniprot.org/uniprot/#_E5KNU5-mappedCitation-27344355
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2147E933A749833E5BE25476B1FB1C4BE43876387051A4D1EC324C9A1F623D75FE72E1469BAB87D4FE359826F6789D2F