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DESCRIBE <http://purl.uniprot.org/SHA-384/EFF7A572229DDABD4D514C8D04271C07B31FB0506427C8643C8A9DCBBC06D508E968D46C329090CA0F3329841550AACC>
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http://purl.uniprot.org/SHA-384/EFF7A572229DDABD4D514C8D04271C07B31FB0506427C8643C8A9DCBBC06D508E968D46C329090CA0F3329841550AACC
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/EFF7A572229DDABD4D514C8D04271C07B31FB0506427C8643C8A9DCBBC06D508E968D46C329090CA0F3329841550AACC
http://www.w3.org/2000/01/rdf-schema#comment
"Analysis of the ADSL gene showed a R426H mutation in four unrelated patients with metabolic diseases."
xsd:string
http://purl.uniprot.org/uniprot/#_864525D020DFA06E0FAB6580FCB666063EA2879208ED455B30C405AD4C5A2D5E1C209A729FB7C95714DAD12A7F244872
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/EFF7A572229DDABD4D514C8D04271C07B31FB0506427C8643C8A9DCBBC06D508E968D46C329090CA0F3329841550AACC
http://purl.uniprot.org/uniprot/B4DEP1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EFF7A572229DDABD4D514C8D04271C07B31FB0506427C8643C8A9DCBBC06D508E968D46C329090CA0F3329841550AACC
http://purl.uniprot.org/uniprot/#_B4DEP1-mappedCitation-18524658
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EFF7A572229DDABD4D514C8D04271C07B31FB0506427C8643C8A9DCBBC06D508E968D46C329090CA0F3329841550AACC