SPARQL
Downloads
Documentation/Help
Skip Header
Results
Your Query
Add common prefixes
DESCRIBE <http://purl.uniprot.org/SHA-384/1F538FABC5D78B9AE32213027F53563FF7A2601837AEE12FDA4A4ABD76E76514833914A0216988E379ADFC0D168FE03D>
Submit Query
Cancel
RDF/XML
NTriples
Turtle
Show query
Share
Subject
Predicate
Object
http://purl.uniprot.org/SHA-384/1F538FABC5D78B9AE32213027F53563FF7A2601837AEE12FDA4A4ABD76E76514833914A0216988E379ADFC0D168FE03D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/1F538FABC5D78B9AE32213027F53563FF7A2601837AEE12FDA4A4ABD76E76514833914A0216988E379ADFC0D168FE03D
http://www.w3.org/2000/01/rdf-schema#comment
"This is the first report showing the pathogenicity of three missense variants (p.(Gly843Glu) p.(Gly2186Glu) and p.(Ile2188Thr)) and the presence of copy number variations in the EYS gene."
xsd:string
http://purl.uniprot.org/uniprot/#_E1C04AD0DB06B56243499722E00EAB33408CC8D3EE24808421BFBE701CEA292F7EFD2FEC27C3A468B87775E5BA4D2A01
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/1F538FABC5D78B9AE32213027F53563FF7A2601837AEE12FDA4A4ABD76E76514833914A0216988E379ADFC0D168FE03D
http://purl.uniprot.org/uniprot/F1T0I0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1F538FABC5D78B9AE32213027F53563FF7A2601837AEE12FDA4A4ABD76E76514833914A0216988E379ADFC0D168FE03D
http://purl.uniprot.org/uniprot/#_F1T0I0-mappedCitation-31814702
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1F538FABC5D78B9AE32213027F53563FF7A2601837AEE12FDA4A4ABD76E76514833914A0216988E379ADFC0D168FE03D