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DESCRIBE <http://purl.uniprot.org/SHA-384/E2F885E6525BC242E3B7AA74C2CEA74873797AC57E9BD6D4B8A4FA661AD046213157E7F3D044DEFEB959A5D03D1AD4BC>
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http://purl.uniprot.org/SHA-384/E2F885E6525BC242E3B7AA74C2CEA74873797AC57E9BD6D4B8A4FA661AD046213157E7F3D044DEFEB959A5D03D1AD4BC
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E2F885E6525BC242E3B7AA74C2CEA74873797AC57E9BD6D4B8A4FA661AD046213157E7F3D044DEFEB959A5D03D1AD4BC
http://www.w3.org/2000/01/rdf-schema#comment
"Missense mutant of Jag1 (Jag1(Ndr)) disrupts bile duct development and is responsible for Alagille syndrome phenotypes in heart eye and craniofacial dysmorphology."
xsd:string
http://purl.uniprot.org/uniprot/#_86EC9DED6B5797A13227BEF544783A311D4781480BDE223C0E6D3BFEF7DE2CB6DEE43B0A8243DB360C722FD3D3C1E0FE
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E2F885E6525BC242E3B7AA74C2CEA74873797AC57E9BD6D4B8A4FA661AD046213157E7F3D044DEFEB959A5D03D1AD4BC
http://purl.uniprot.org/uniprot/Q9QXX0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E2F885E6525BC242E3B7AA74C2CEA74873797AC57E9BD6D4B8A4FA661AD046213157E7F3D044DEFEB959A5D03D1AD4BC
http://purl.uniprot.org/uniprot/#_Q9QXX0-mappedCitation-29162437
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E2F885E6525BC242E3B7AA74C2CEA74873797AC57E9BD6D4B8A4FA661AD046213157E7F3D044DEFEB959A5D03D1AD4BC