Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance.
- NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_assertion description "[In the current study, we report the identification of a novel disease-causing mutation in the ASAH1 gene that results in Farber disease in an Indian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance.
- NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_assertion evidence source_evidence_literature NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance.
- NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_assertion SIO_000772 16951918 NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance.
- NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_assertion wasDerivedFrom befree-20150227 NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance.
- NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_assertion wasGeneratedBy ECO_0000203 NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP253582.RA219ocGIHY4KfNR6dzGFD67FKiWW5GT5PFmtJ11wgnUQ130_provenance.