Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.
- NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_assertion description "[Here, we report the identification of mutations in another gene in plasmalogen biosynthesis, fatty acyl-CoA reductase 1 (FAR1), in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.
- NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_assertion evidence source_evidence_literature NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.
- NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_assertion SIO_000772 25439727 NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.
- NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_assertion wasDerivedFrom befree-2016 NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.
- NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_assertion wasGeneratedBy ECO_0000203 NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.