Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP998961.RAMu_RkC08fuoxWCWCjas1NDtR099XEPXT761tiTx0ytw#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- LHGDN importedOn "2009-03-31" provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion SIO_000772 18451335 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[we describe a large atypical Holt-Oram syndrome family with mild skeletal deformations and paroxysmal atrial fibrillation, but few have congenital heart disease/of TBX5 revealed a novel mutation, c.373G > A, resulting in p.Gly125Arg.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.