Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_assertion> ?p ?o ?g. }
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- NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_assertion type Assertion NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_head.
- NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_assertion description "[Childhood ataxia with central nervous system hypomyelination (CACH), or vanishing white matter leukoencephalopathy (VWM), is a fatal brain disorder caused by mutations in eukaryotic initiation factor 2B (eIF2B).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_provenance.
- NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_assertion evidence source_evidence_literature NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_provenance.
- NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_assertion SIO_000772 14993275 NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_provenance.
- NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_assertion wasDerivedFrom befree-20150227 NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_provenance.
- NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_assertion wasGeneratedBy ECO_0000203 NP810413.RAdrdzJIdMw0HmiZyRSdGpe0E8dGvN8IdgUbmtQ1-qjQQ130_provenance.