Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_assertion> ?p ?o ?g. }
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- NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_assertion type Assertion NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_head.
- NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_assertion description "[We have identified by sequence analysis a novel missense heterozygous mutation in the NKX2-5 gene, specifically a substitution of glutamine for proline at codon 160, in a Moroccan family, the affected members having a deficiency of the floor of the oval fossa and atrioventricular block.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_provenance.
- NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_assertion evidence source_evidence_literature NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_provenance.
- NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_assertion SIO_000772 17184575 NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_provenance.
- NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_assertion wasDerivedFrom befree-2016 NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_provenance.
- NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_assertion wasGeneratedBy ECO_0000203 NP585584.RAv0a66M1jNi6x3AdGt1mS-DGS0jpT1So2OlcDJBMKS88130_provenance.