Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_assertion> ?p ?o ?g. }
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- NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_assertion type Assertion NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_head.
- NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_assertion wasGeneratedBy ECO_0000203 NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_provenance.
- NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_assertion wasDerivedFrom befree-20150227 NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_provenance.
- NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_assertion SIO_000772 16237566 NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_provenance.
- NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_assertion evidence source_evidence_literature NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_provenance.
- NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_assertion description "[For SMARCAL1 mutations a clear genotype-phenotype correlation has been reported: severe SIOD with in utero or early-childhood onset leading to end-stage renal disease within a few years is caused by nonsense, frame shift or splice mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP897267.RAAWx3S22CSwAz5cgyaKB8FEt7eb-fkvIIry78OAXQ67E130_provenance.