Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance.
- befree-2016 importedOn "2016-02-19" NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance.
- NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_assertion wasGeneratedBy ECO_0000203 NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance.
- NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_assertion wasDerivedFrom befree-2016 NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance.
- NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_assertion SIO_000772 11092761 NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance.
- NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_assertion evidence source_evidence_literature NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance.
- NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_assertion description "[This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP301275.RAvmVcN7xnRRFAGYozQv2V2XTUXIdBM9LhSxGFg-zZZHs130_provenance.