Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP251910.RAOVRmUGXFSzwowmaBJbN7HJuqhGjLmRFmG3wy72_zogw#assertion> ?p ?o ?g. }
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- assertion description "[By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 22560297 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.