Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance.
- NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_assertion description "[A 55-year-old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C missense mutation residing in the N-terminal CDC48 domain of VCP, which is involved in ubiquitin binding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance.
- NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_assertion evidence source_evidence_literature NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance.
- NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_assertion SIO_000772 15732117 NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance.
- NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_assertion wasDerivedFrom lhgdn-20090331 NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance.
- NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_assertion wasGeneratedBy ECO_0000203 NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP134989.RAk_YENQguqoEfO-Up1ygxVGhsGaEGiYxktoAUhXfYRmY130_provenance.