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DESCRIBE <http://purl.uniprot.org/SHA-384/E1798CEC5D92441D540EC4C6B3B98DDABFAF831C630F85F08A07A7A633CA07F38C2341F1EA1BFFCA9E540A5A0DAC8A4A>
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http://purl.uniprot.org/SHA-384/E1798CEC5D92441D540EC4C6B3B98DDABFAF831C630F85F08A07A7A633CA07F38C2341F1EA1BFFCA9E540A5A0DAC8A4A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E1798CEC5D92441D540EC4C6B3B98DDABFAF831C630F85F08A07A7A633CA07F38C2341F1EA1BFFCA9E540A5A0DAC8A4A
http://www.w3.org/2000/01/rdf-schema#comment
"The mutation causes a dominant-negative HNF1A protein variant which blocks HNF1A wild-type-mediated gene expression.The novel Q495X mutation is the likely cause of our patient's diabetes and hepatic adenomatosis."
xsd:string
http://purl.uniprot.org/uniprot/#_2CFD7903C3DD28D776F8D02E27F6A6F776C22AD00CFE33BC82F254E88E6EB49D25C0383C851D446ED8B23A1557EA5FC5
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E1798CEC5D92441D540EC4C6B3B98DDABFAF831C630F85F08A07A7A633CA07F38C2341F1EA1BFFCA9E540A5A0DAC8A4A
http://purl.uniprot.org/uniprot/A0A2R3XWC8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E1798CEC5D92441D540EC4C6B3B98DDABFAF831C630F85F08A07A7A633CA07F38C2341F1EA1BFFCA9E540A5A0DAC8A4A
http://purl.uniprot.org/uniprot/#_A0A2R3XWC8-mappedCitation-23616187
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E1798CEC5D92441D540EC4C6B3B98DDABFAF831C630F85F08A07A7A633CA07F38C2341F1EA1BFFCA9E540A5A0DAC8A4A