SPARQL
Downloads
Documentation/Help
Skip Header
Results
Your Query
Add common prefixes
DESCRIBE <http://purl.uniprot.org/SHA-384/F46357B7EC2832AA22320507DD2FB0F5935BB755A775996E2C46EFF13DAD620D0B0FBAA4D69871591C4B01072AECD2A8>
Submit Query
Cancel
RDF/XML
NTriples
Turtle
Show query
Share
Subject
Predicate
Object
http://purl.uniprot.org/SHA-384/F46357B7EC2832AA22320507DD2FB0F5935BB755A775996E2C46EFF13DAD620D0B0FBAA4D69871591C4B01072AECD2A8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/F46357B7EC2832AA22320507DD2FB0F5935BB755A775996E2C46EFF13DAD620D0B0FBAA4D69871591C4B01072AECD2A8
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/#_AF9B291FECD602461EC49882A2D0E54114C6FF18330020B1B0532FBCABA5A2B18AAEDB45605EC14083F2EBF5A71838B7
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/F46357B7EC2832AA22320507DD2FB0F5935BB755A775996E2C46EFF13DAD620D0B0FBAA4D69871591C4B01072AECD2A8
http://purl.uniprot.org/uniprot/P32243
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F46357B7EC2832AA22320507DD2FB0F5935BB755A775996E2C46EFF13DAD620D0B0FBAA4D69871591C4B01072AECD2A8
http://purl.uniprot.org/uniprot/#_P32243-mappedCitation-26860946
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F46357B7EC2832AA22320507DD2FB0F5935BB755A775996E2C46EFF13DAD620D0B0FBAA4D69871591C4B01072AECD2A8