Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP998961.RAMu_RkC08fuoxWCWCjas1NDtR099XEPXT761tiTx0ytw#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- 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.