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DESCRIBE <http://purl.uniprot.org/SHA-384/D590C1B8E9088DEBE4DDFDEC4945A98D20E2431D12E31A4E40EE1DFB672EF1AB7333E1B78AD152FB556F55EC0EC62CFC>
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http://purl.uniprot.org/SHA-384/D590C1B8E9088DEBE4DDFDEC4945A98D20E2431D12E31A4E40EE1DFB672EF1AB7333E1B78AD152FB556F55EC0EC62CFC
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D590C1B8E9088DEBE4DDFDEC4945A98D20E2431D12E31A4E40EE1DFB672EF1AB7333E1B78AD152FB556F55EC0EC62CFC
http://www.w3.org/2000/01/rdf-schema#comment
"haploinsufficiency of TCF4 causes PHS and suggest that D. rerio is a valuable model to study the molecular pathogenesis of Pitt-Hopkins syndrome and the role of TCF4 in brain development"
xsd:string
http://purl.uniprot.org/uniprot/#_63774ADB337AAD6CCE2220FB4438B7463C420174F1AB943DE686CC51C12E8F50DD7093AB6B319F8BDBB390F5438CDAA0
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D590C1B8E9088DEBE4DDFDEC4945A98D20E2431D12E31A4E40EE1DFB672EF1AB7333E1B78AD152FB556F55EC0EC62CFC
http://purl.uniprot.org/uniprot/H3BTP3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D590C1B8E9088DEBE4DDFDEC4945A98D20E2431D12E31A4E40EE1DFB672EF1AB7333E1B78AD152FB556F55EC0EC62CFC
http://purl.uniprot.org/uniprot/#_H3BTP3-mappedCitation-17478476
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D590C1B8E9088DEBE4DDFDEC4945A98D20E2431D12E31A4E40EE1DFB672EF1AB7333E1B78AD152FB556F55EC0EC62CFC