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DESCRIBE <http://purl.uniprot.org/SHA-384/685054662302A20F3779FBC734A503880297C80651DF30B988BE2625FF706341D2AD9C6A33F6EEF3F28C028C2B3319B1>
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http://purl.uniprot.org/SHA-384/685054662302A20F3779FBC734A503880297C80651DF30B988BE2625FF706341D2AD9C6A33F6EEF3F28C028C2B3319B1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/685054662302A20F3779FBC734A503880297C80651DF30B988BE2625FF706341D2AD9C6A33F6EEF3F28C028C2B3319B1
http://www.w3.org/2000/01/rdf-schema#comment
"All neonates have harbored mutations of the solute carrier family 25 member 13 protein (SLC25A13) gene suggesting the SLC25A13 gene probably underlie the neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)."
xsd:string
http://purl.uniprot.org/uniprot/#_E0A21ABACA34C74152A0517E6FD0719A0FF28D83FA8132EED81018BCD47CC9E3D8E1B64007A783887D8F7708E35AAC96
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/685054662302A20F3779FBC734A503880297C80651DF30B988BE2625FF706341D2AD9C6A33F6EEF3F28C028C2B3319B1
http://purl.uniprot.org/uniprot/Q75M55
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/685054662302A20F3779FBC734A503880297C80651DF30B988BE2625FF706341D2AD9C6A33F6EEF3F28C028C2B3319B1
http://purl.uniprot.org/uniprot/#_Q75M55-mappedCitation-29419856
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/685054662302A20F3779FBC734A503880297C80651DF30B988BE2625FF706341D2AD9C6A33F6EEF3F28C028C2B3319B1