Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance.
- NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_assertion description "[A mutation in exon 13, which alters codon 768 from a GAG (Glu) to a GAC (Asp), was found to segregate with the FMTC phenotype in this family but not with the adrenal medullary hyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance.
- NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_assertion evidence source_evidence_literature NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance.
- NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_assertion SIO_000772 9111992 NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance.
- NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_assertion wasDerivedFrom befree-20150227 NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance.
- NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_assertion wasGeneratedBy ECO_0000203 NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance.
- befree-20150227 importedOn "2015-02-27" NP429004.RAoxapmlm6xRzAZCEoawd91z1zMA8bPI0MNsNR5tNmL5s130_provenance.