Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance.
- NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_assertion description "[The authors report a novel 24-bp in-frame deletion within exon 2 of the ARX gene in a male child with X-linked mental retardation and review the spectrum of ARX mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance.
- NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_assertion evidence source_evidence_literature NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance.
- NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_assertion SIO_000772 17641262 NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance.
- NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_assertion wasDerivedFrom befree-20140225 NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance.
- NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_assertion wasGeneratedBy ECO_0000203 NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance.
- befree-20140225 importedOn "2014-02-25" NP246756.RAWZiAfjx1vHN9XWPhsR6IrAoGqDE9dZIt3grfmc8E46k130_provenance.