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DESCRIBE <http://purl.uniprot.org/SHA-384/F05D5C7FA8A7D4ABCAD1E0E5C7D604DBCDC2E91A176C2BF4FFE1DAF1697EB6583647069B6614B94563AB7273A5D7D865>
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http://purl.uniprot.org/SHA-384/F05D5C7FA8A7D4ABCAD1E0E5C7D604DBCDC2E91A176C2BF4FFE1DAF1697EB6583647069B6614B94563AB7273A5D7D865
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/F05D5C7FA8A7D4ABCAD1E0E5C7D604DBCDC2E91A176C2BF4FFE1DAF1697EB6583647069B6614B94563AB7273A5D7D865
http://www.w3.org/2000/01/rdf-schema#comment
"we successfully identified novel compound heterozygous mutations in EPG5 in a patient who was clinically considered to have Vici syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_75929150C5C1B6B0A4A028C60165E355AF5FD2F20E8705042FA4125DB4E0C1BF9D21896EE594F054F1C85B38F44314BA
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/F05D5C7FA8A7D4ABCAD1E0E5C7D604DBCDC2E91A176C2BF4FFE1DAF1697EB6583647069B6614B94563AB7273A5D7D865
http://purl.uniprot.org/uniprot/Q9HCE0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F05D5C7FA8A7D4ABCAD1E0E5C7D604DBCDC2E91A176C2BF4FFE1DAF1697EB6583647069B6614B94563AB7273A5D7D865
http://purl.uniprot.org/uniprot/#_Q9HCE0-mappedCitation-30152144
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F05D5C7FA8A7D4ABCAD1E0E5C7D604DBCDC2E91A176C2BF4FFE1DAF1697EB6583647069B6614B94563AB7273A5D7D865