Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance.
- NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_assertion description "[Mutations in the gene encoding fukutin-related protein (FKRP) cause a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies (CMDs) with brain malformations and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance.
- NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_assertion evidence source_evidence_literature NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance.
- NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_assertion SIO_000772 15574464 NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance.
- NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_assertion wasDerivedFrom befree-2016 NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance.
- NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_assertion wasGeneratedBy ECO_0000203 NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance.
- befree-2016 importedOn "2016-02-19" NP470866.RAGv2d9hMPsIhURfLOjQUjEM54kMqVFo9jV4k8AqFQNEA130_provenance.