Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_assertion> ?p ?o ?g. }
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- NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_assertion type Assertion NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_head.
- NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_assertion wasGeneratedBy ECO_0000203 NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_provenance.
- NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_assertion wasDerivedFrom befree-20150227 NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_provenance.
- NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_assertion SIO_000772 12022040 NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_provenance.
- NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_assertion evidence source_evidence_literature NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_provenance.
- NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_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." NP228599.RAGgTWSAMxjbi_gpCnnTdzMEegt1XFJjljb-NZ_OZivH4130_provenance.