Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1166303.RAFolzW9Z9c-eMT1-e7DuK34KpK7gztAWwDmj8M21oSBQ#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, childhood ataxia with CNS hypomyelination/vanishing white matter disease or CACH/VWM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16378743 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.