SPARQL
Downloads
Documentation/Help
Skip Header
Results
Your Query
Add common prefixes
DESCRIBE <http://purl.uniprot.org/SHA-384/FC61E306470C2CE740D0CC2AA5FAA888CC8F07FB60DA508EA76D4FEC1840CDF21D8B01BE6D523B92393EE4137FC962E7>
Submit Query
Cancel
RDF/XML
NTriples
Turtle
Show query
Share
Subject
Predicate
Object
http://purl.uniprot.org/SHA-384/FC61E306470C2CE740D0CC2AA5FAA888CC8F07FB60DA508EA76D4FEC1840CDF21D8B01BE6D523B92393EE4137FC962E7
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FC61E306470C2CE740D0CC2AA5FAA888CC8F07FB60DA508EA76D4FEC1840CDF21D8B01BE6D523B92393EE4137FC962E7
http://www.w3.org/2000/01/rdf-schema#comment
"Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1 COL6A2 and COL6A3."
xsd:string
http://purl.uniprot.org/uniprot/#_7572F54A35C60E2F88A4B9D2D9A2039BB554258EBD084545AD85D02632040C2AB69F4B3BD15C8DE615B6712EF98BD5EF
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FC61E306470C2CE740D0CC2AA5FAA888CC8F07FB60DA508EA76D4FEC1840CDF21D8B01BE6D523B92393EE4137FC962E7
http://purl.uniprot.org/uniprot/P12111
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FC61E306470C2CE740D0CC2AA5FAA888CC8F07FB60DA508EA76D4FEC1840CDF21D8B01BE6D523B92393EE4137FC962E7
http://purl.uniprot.org/uniprot/#_P12111-mappedCitation-18366090
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FC61E306470C2CE740D0CC2AA5FAA888CC8F07FB60DA508EA76D4FEC1840CDF21D8B01BE6D523B92393EE4137FC962E7