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DESCRIBE <http://purl.uniprot.org/SHA-384/0F7B403C5123CB01A41087633CD0D304D14258829227B927E50992C90063C3322280A69D1EFAA19844A99FF69C5C9356>
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http://purl.uniprot.org/SHA-384/0F7B403C5123CB01A41087633CD0D304D14258829227B927E50992C90063C3322280A69D1EFAA19844A99FF69C5C9356
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0F7B403C5123CB01A41087633CD0D304D14258829227B927E50992C90063C3322280A69D1EFAA19844A99FF69C5C9356
http://www.w3.org/2000/01/rdf-schema#comment
"De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_34D47C4C370B344E2722960920C8C9972C16A208AF685E8ABE47DFD2B9D01C460A9091DECC8AA444CEA880EAE4D6C329
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0F7B403C5123CB01A41087633CD0D304D14258829227B927E50992C90063C3322280A69D1EFAA19844A99FF69C5C9356
http://purl.uniprot.org/uniprot/B4DNT1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0F7B403C5123CB01A41087633CD0D304D14258829227B927E50992C90063C3322280A69D1EFAA19844A99FF69C5C9356
http://purl.uniprot.org/uniprot/#_B4DNT1-mappedCitation-32694869
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0F7B403C5123CB01A41087633CD0D304D14258829227B927E50992C90063C3322280A69D1EFAA19844A99FF69C5C9356