Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- befree-2016 importedOn "2016-02-19" NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion wasGeneratedBy ECO_0000203 NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion wasDerivedFrom befree-2016 NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion SIO_000772 11973334 NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion evidence source_evidence_literature NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion description "[We investigated a large EBS kindred who exhibited a markedly heterogeneous clinical presentation and detected two distinct keratin 5 mutations in the proband, the most severely affected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.