Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_assertion> ?p ?o ?g. }
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- NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_assertion type Assertion NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_head.
- NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_assertion wasGeneratedBy ECO_0000203 NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_provenance.
- NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_assertion wasDerivedFrom befree-20150227 NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_provenance.
- NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_assertion SIO_000772 9633819 NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_provenance.
- NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_assertion evidence source_evidence_literature NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_provenance.
- NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_assertion description "[The associated genetic defects characterized revealed compound heterozygosity for a splice defect leading to skipping of exon 8, due to a G-->A transition at position -1 of the exon 8 splice donor site, and a point mutation leading to a Hisl08Pro change (CAT-->CCT) in two patients (siblings) with mild CESD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP288475.RA3qICu6wqV8lpvAsYFoGePK7EhninymZspK5HAvpEeVI130_provenance.