Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance.
- NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_assertion description "[The present observations also suggest that cathepsin D deficiency should be considered as a possible diagnosis in microcephalic neonates, who present with seizures at or before birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance.
- NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_assertion evidence source_evidence_literature NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance.
- NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_assertion SIO_000772 16670177 NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance.
- NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_assertion wasDerivedFrom befree-20140225 NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance.
- NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_assertion wasGeneratedBy ECO_0000203 NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP727559.RA0igWl9bVgoPpQiJJ6wtsTger--pGRomkn4GxWpa3kmU130_provenance.