Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_assertion> ?p ?o ?g. }
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- NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_assertion type Assertion NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_head.
- NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_assertion description "[Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the ?-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_provenance.
- NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_assertion evidence source_evidence_literature NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_provenance.
- NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_assertion SIO_000772 21738355 NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_provenance.
- NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_assertion wasDerivedFrom befree-2016 NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_provenance.
- NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_assertion wasGeneratedBy ECO_0000203 NP907941.RAQve9ylqV-oORzNcuqR6PSZmZK32hhLI4R1hzINUmhss130_provenance.