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DESCRIBE <http://purl.uniprot.org/SHA-384/E5F92905454A2506211ED1E032ECD34172AAF07E842D9B45175E4F22663013722D892555A456149CEC03218E163CA162>
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http://purl.uniprot.org/SHA-384/E5F92905454A2506211ED1E032ECD34172AAF07E842D9B45175E4F22663013722D892555A456149CEC03218E163CA162
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E5F92905454A2506211ED1E032ECD34172AAF07E842D9B45175E4F22663013722D892555A456149CEC03218E163CA162
http://www.w3.org/2000/01/rdf-schema#comment
"description of a family manifesting an autosomal recessive axonal sensorimotor neuropathy that dominated the clinical phenotype for more than 2 decades; this was due to compound heterozygous mutations in the POLG1 gene"
xsd:string
http://purl.uniprot.org/uniprot/#_D20A1C18C61EF4BC662C6A40A46572E32FB7376D1DB3D80F318BBA6D2520BD874F4E4CAB4175E2CEC2762BCDE0AE76A1
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E5F92905454A2506211ED1E032ECD34172AAF07E842D9B45175E4F22663013722D892555A456149CEC03218E163CA162
http://purl.uniprot.org/uniprot/E5KNU5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E5F92905454A2506211ED1E032ECD34172AAF07E842D9B45175E4F22663013722D892555A456149CEC03218E163CA162
http://purl.uniprot.org/uniprot/#_E5KNU5-mappedCitation-18195151
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E5F92905454A2506211ED1E032ECD34172AAF07E842D9B45175E4F22663013722D892555A456149CEC03218E163CA162