Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_assertion> ?p ?o ?g. }
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- NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_assertion type Assertion NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_head.
- NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_assertion wasGeneratedBy ECO_0000218 NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_provenance.
- NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_assertion wasDerivedFrom ctd_human-20130708 NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_provenance.
- NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_assertion SIO_000772 12022040 NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_provenance.
- NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_assertion evidence source_evidence_curated NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_provenance.
- NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_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." NP20617.RAAwQMWGA5DR5v3Wwl4kXuwrUE3ENShPoWEJ6Fqz-WtG0130_provenance.