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DESCRIBE <http://purl.uniprot.org/SHA-384/6750FBD3953B9483D3041556513D14F4A7940ECE316CAFB1AF4CA9A6189DDD37CC3684B409593155C35E5C06BD4FC904>
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http://purl.uniprot.org/SHA-384/6750FBD3953B9483D3041556513D14F4A7940ECE316CAFB1AF4CA9A6189DDD37CC3684B409593155C35E5C06BD4FC904
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6750FBD3953B9483D3041556513D14F4A7940ECE316CAFB1AF4CA9A6189DDD37CC3684B409593155C35E5C06BD4FC904
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/#_CDB25286164A1FBB8FD72CCD8B9BE6FD5475C197B27FFC2DF54A1DD5806CA228CD09876671F72771F55D381F9DD4CD20
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/6750FBD3953B9483D3041556513D14F4A7940ECE316CAFB1AF4CA9A6189DDD37CC3684B409593155C35E5C06BD4FC904
http://purl.uniprot.org/uniprot/A0A2R3XWA6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6750FBD3953B9483D3041556513D14F4A7940ECE316CAFB1AF4CA9A6189DDD37CC3684B409593155C35E5C06BD4FC904
http://purl.uniprot.org/uniprot/#_A0A2R3XWA6-mappedCitation-23616187
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6750FBD3953B9483D3041556513D14F4A7940ECE316CAFB1AF4CA9A6189DDD37CC3684B409593155C35E5C06BD4FC904