Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.
- NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_assertion description "[Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.
- NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_assertion evidence source_evidence_literature NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.
- NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_assertion SIO_000772 25178427 NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.
- NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_assertion wasDerivedFrom befree-2016 NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.
- NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_assertion wasGeneratedBy ECO_0000203 NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.
- befree-2016 importedOn "2016-02-19" NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.