Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance.
- NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_assertion wasGeneratedBy ECO_0000203 NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance.
- NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_assertion wasDerivedFrom befree-20140225 NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance.
- NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_assertion SIO_000772 9633819 NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance.
- NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_assertion evidence source_evidence_literature NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance.
- NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_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." NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_provenance.