Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion description "[In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion evidence source_evidence_literature NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion SIO_000772 10733662 NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion wasDerivedFrom befree-2016 NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion wasGeneratedBy ECO_0000203 NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- befree-2016 importedOn "2016-02-19" NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.