Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP762956.RACJRJzin7DTdt3qiZYTMD1Ke7s9sUspmpnIyuR2-Y-rE#assertion> ?p ?o ?g. }
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- assertion description "[Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25132448 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.