Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_assertion> ?p ?o ?g. }
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- NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_assertion type Assertion NP505676.RA9_jP5TECKLxDEB4UiYg3bmU-glMjwawMhhI2ubYdSZ8130_head.
- 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.