SPARQL
Downloads
Documentation/Help
Skip Header
Results
Your Query
Add common prefixes
DESCRIBE <http://purl.uniprot.org/SHA-384/1B370F3C346658F2851788291F54627AAF27F20B4B7F487B0101C78492B6D2029F61780CC069883702C0078AE40D23A8>
Submit Query
Cancel
RDF/XML
NTriples
Turtle
Show query
Share
Subject
Predicate
Object
http://purl.uniprot.org/SHA-384/1B370F3C346658F2851788291F54627AAF27F20B4B7F487B0101C78492B6D2029F61780CC069883702C0078AE40D23A8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/1B370F3C346658F2851788291F54627AAF27F20B4B7F487B0101C78492B6D2029F61780CC069883702C0078AE40D23A8
http://www.w3.org/2000/01/rdf-schema#comment
"We report a rare case of inherited 14q22.3 deletion in a very large family presenting with variable features of eye abnormalities (microphthalmia anophthalmia and peripapillary pigmentation) pituitary anomalies and learning difficulties."
xsd:string
http://purl.uniprot.org/uniprot/#_529A3C2AA5384CB75BF1424CC32C87DDBA18DE5ACE345CC52A3C9AEA498B64159D7DA97FADF9F8E88A21D7042A6853F7
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/1B370F3C346658F2851788291F54627AAF27F20B4B7F487B0101C78492B6D2029F61780CC069883702C0078AE40D23A8
http://purl.uniprot.org/uniprot/F1T0D0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1B370F3C346658F2851788291F54627AAF27F20B4B7F487B0101C78492B6D2029F61780CC069883702C0078AE40D23A8
http://purl.uniprot.org/uniprot/#_F1T0D0-mappedCitation-26860946
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1B370F3C346658F2851788291F54627AAF27F20B4B7F487B0101C78492B6D2029F61780CC069883702C0078AE40D23A8