Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance.
- NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_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." NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance.
- NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_assertion evidence source_evidence_literature NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance.
- NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_assertion SIO_000772 9111992 NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance.
- NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_assertion wasDerivedFrom befree-20140225 NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance.
- NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_assertion wasGeneratedBy ECO_0000203 NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP832385.RA8Jl-K5zBJJz9RcN6RdhMOk_qJxn1GikpyC9v_9R5ivs130_provenance.