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DESCRIBE <http://purl.uniprot.org/SHA-384/AA77DB62C7086E869B3EF0C7F3DB2FCCA8FFF25D66C898DFB1C3222EDAE8BF69A8D5CEE78282489D3665E0977EA0C339>
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http://purl.uniprot.org/SHA-384/AA77DB62C7086E869B3EF0C7F3DB2FCCA8FFF25D66C898DFB1C3222EDAE8BF69A8D5CEE78282489D3665E0977EA0C339
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/AA77DB62C7086E869B3EF0C7F3DB2FCCA8FFF25D66C898DFB1C3222EDAE8BF69A8D5CEE78282489D3665E0977EA0C339
http://www.w3.org/2000/01/rdf-schema#comment
"results indicate that the novel c.2251delGT (p.V751fs) mutation in the ATP2C1 gene is responsible for Hailey-Hailey disease (HHD) in this Chinese family; this study expands the spectrum of ATP2C1 mutations associated with HHD"
xsd:string
http://purl.uniprot.org/uniprot/#_D72A188C689F9790FAB3AE3DB3EDE2F2A9A1C8E2F122BFC7D983AD1CA1EA835E6F3D4E757AF134E2F11FF58C1F998F2A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/AA77DB62C7086E869B3EF0C7F3DB2FCCA8FFF25D66C898DFB1C3222EDAE8BF69A8D5CEE78282489D3665E0977EA0C339
http://purl.uniprot.org/uniprot/P98194
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AA77DB62C7086E869B3EF0C7F3DB2FCCA8FFF25D66C898DFB1C3222EDAE8BF69A8D5CEE78282489D3665E0977EA0C339
http://purl.uniprot.org/uniprot/#_P98194-mappedCitation-19126050
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AA77DB62C7086E869B3EF0C7F3DB2FCCA8FFF25D66C898DFB1C3222EDAE8BF69A8D5CEE78282489D3665E0977EA0C339