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DESCRIBE <http://purl.uniprot.org/SHA-384/BF2A8DC511E54ADB82AAB67241EB332F49E142E384940550ED72291B58F029E66550B1A4C84BF20AA8718744FE7C48F7>
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http://purl.uniprot.org/SHA-384/BF2A8DC511E54ADB82AAB67241EB332F49E142E384940550ED72291B58F029E66550B1A4C84BF20AA8718744FE7C48F7
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BF2A8DC511E54ADB82AAB67241EB332F49E142E384940550ED72291B58F029E66550B1A4C84BF20AA8718744FE7C48F7
http://www.w3.org/2000/01/rdf-schema#comment
"This study describes for the first time the association between ASAH1 variants and an adult SMA phenotype with no myoclonic epilepsy nor death in early age thus expanding the phenotypic spectrum of ASAH1-related SMA."
xsd:string
http://purl.uniprot.org/uniprot/#_455B583DA91422526534A98EEF93E982A77785F545A82A07BEF278F87D0917C95BC55A0A162C7A4996F40A45025565DC
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BF2A8DC511E54ADB82AAB67241EB332F49E142E384940550ED72291B58F029E66550B1A4C84BF20AA8718744FE7C48F7
http://purl.uniprot.org/uniprot/B1B5S8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BF2A8DC511E54ADB82AAB67241EB332F49E142E384940550ED72291B58F029E66550B1A4C84BF20AA8718744FE7C48F7
http://purl.uniprot.org/uniprot/#_B1B5S8-mappedCitation-27026573
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BF2A8DC511E54ADB82AAB67241EB332F49E142E384940550ED72291B58F029E66550B1A4C84BF20AA8718744FE7C48F7