Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_assertion> ?p ?o ?g. }
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- NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_assertion type Assertion NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_head.
- NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_assertion description "[We confirm an overlap in the NPHS1/NPHS2 mutation spectrum with the characterization of a unique di-genic inheritance of NPHS1 and NPHS2 mutations, which results in a 'tri-allelic' hit and appears to modify the phenotype from CNF to one of congenital focal segmental glomerulosclerosis (FSGS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_provenance.
- NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_assertion evidence source_evidence_literature NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_provenance.
- NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_assertion SIO_000772 11854170 NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_provenance.
- NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_assertion wasDerivedFrom befree-20150227 NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_provenance.
- NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_assertion wasGeneratedBy ECO_0000203 NP597434.RAS8BPBoKubPC8Lgsr9skEIRrmGnvEwtEDQ0TsL7db9I0130_provenance.