Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance.
- NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_assertion wasGeneratedBy ECO_0000203 NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance.
- NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_assertion wasDerivedFrom befree-20150227 NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance.
- NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_assertion SIO_000772 9633819 NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance.
- NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_assertion evidence source_evidence_literature NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance.
- NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_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." NP283240.RAtr9b-RMfGOSJdSAnIxiRALKGjg4UmmTueFvww9FEKHc130_provenance.