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DESCRIBE <http://purl.uniprot.org/SHA-384/72C68AD598AB9521F5B98379C5FB4FCEBECEB03A968FB241BA61CC485FBE61ADB2EA41CF8CA786122425A059532D6E26>
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http://purl.uniprot.org/SHA-384/72C68AD598AB9521F5B98379C5FB4FCEBECEB03A968FB241BA61CC485FBE61ADB2EA41CF8CA786122425A059532D6E26
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/72C68AD598AB9521F5B98379C5FB4FCEBECEB03A968FB241BA61CC485FBE61ADB2EA41CF8CA786122425A059532D6E26
http://www.w3.org/2000/01/rdf-schema#comment
"study reports the genetic and clinical characteristics of two unrelated LMNA-related congenital muscular dystrophy patients; patient 1 harbored a novel L35P mutation and patient 2 a previously reported R249W mutation"
xsd:string
http://purl.uniprot.org/uniprot/#_BA1ED435003AC4C53215491AC0F92F4CD31F19E374933028B498F031684BE77265CF8B661A36812239EC2FC072843615
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/72C68AD598AB9521F5B98379C5FB4FCEBECEB03A968FB241BA61CC485FBE61ADB2EA41CF8CA786122425A059532D6E26
http://purl.uniprot.org/uniprot/Q5TCI8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/72C68AD598AB9521F5B98379C5FB4FCEBECEB03A968FB241BA61CC485FBE61ADB2EA41CF8CA786122425A059532D6E26
http://purl.uniprot.org/uniprot/#_Q5TCI8-mappedCitation-20886652
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/72C68AD598AB9521F5B98379C5FB4FCEBECEB03A968FB241BA61CC485FBE61ADB2EA41CF8CA786122425A059532D6E26