Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP22950.RAYcu9oeN68iM02ppLdOllGEi1MAihOrduLICnIs6nTe4#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion SIO_000772 12022040 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.