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DESCRIBE <http://purl.uniprot.org/SHA-384/306EF5B8D64D9466A7CAB0CFB87C9510B82AB240B3C4BEC69305753C1513B11F8B95BEAB98B7C3377D5A3DA86EC8FF8D>
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http://purl.uniprot.org/SHA-384/306EF5B8D64D9466A7CAB0CFB87C9510B82AB240B3C4BEC69305753C1513B11F8B95BEAB98B7C3377D5A3DA86EC8FF8D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/306EF5B8D64D9466A7CAB0CFB87C9510B82AB240B3C4BEC69305753C1513B11F8B95BEAB98B7C3377D5A3DA86EC8FF8D
http://www.w3.org/2000/01/rdf-schema#comment
"The identification of two pathogenic variants in a family with mild and severe forms of developmental delay."
xsd:string
http://purl.uniprot.org/uniprot/#_DB64453602F1264E46DBEF89C835E34024FACF5EFF310D6A19856ABD55EF2522CB94EDF47F2B1B0639C85086C4031288
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/306EF5B8D64D9466A7CAB0CFB87C9510B82AB240B3C4BEC69305753C1513B11F8B95BEAB98B7C3377D5A3DA86EC8FF8D
http://purl.uniprot.org/uniprot/Q05086
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/306EF5B8D64D9466A7CAB0CFB87C9510B82AB240B3C4BEC69305753C1513B11F8B95BEAB98B7C3377D5A3DA86EC8FF8D
http://purl.uniprot.org/uniprot/#_Q05086-mappedCitation-33037390
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/306EF5B8D64D9466A7CAB0CFB87C9510B82AB240B3C4BEC69305753C1513B11F8B95BEAB98B7C3377D5A3DA86EC8FF8D