Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.
- NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_assertion description "[Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.
- NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_assertion evidence source_evidence_literature NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.
- NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_assertion SIO_000772 25712130 NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.
- NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_assertion wasDerivedFrom befree-2016 NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.
- NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_assertion wasGeneratedBy ECO_0000203 NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.