Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_assertion> ?p ?o ?g. }
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- NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_assertion type Assertion NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_head.
- NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_assertion wasGeneratedBy ECO_0000203 NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_provenance.
- NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_assertion wasDerivedFrom befree-20150227 NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_provenance.
- NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_assertion SIO_000772 19805825 NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_provenance.
- NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_assertion evidence source_evidence_literature NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_provenance.
- NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_assertion description "[We describe the second documented case in the literature to have a SURF-1 mutation presenting with diffuse leukodystrophy, adding to the growing number of cases of mitochondrial syndromes presenting with white matter disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP720621.RAoQlmTMWd6Npgxi6yMYGZKDwnBjZRGYq6YMvkgVsH8yc130_provenance.