Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP999138.RA3rsuLR8Ev80G61I7CSISBsYJPfIpKzty8czDZAPW41g#assertion> ?p ?o ?g. }
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- assertion description "[Various mutations in the TBX5 gene have been identified in patients with Holt-Oram syndrome, which is characterized by congenital defects in the heart and upper extremities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16332960 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.