Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_assertion> ?p ?o ?g. }
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- NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_assertion type Assertion NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_head.
- NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_assertion description "[When comparing patients with mutations leading to a premature termination codon (PTC) within exons 24-32 to patients with an in-frame mutation within the same region, a significantly higher probability of developing ectopia lentis and mitral insufficiency were found in the second group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_provenance.
- NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_assertion evidence source_evidence_literature NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_provenance.
- NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_assertion SIO_000772 19002209 NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_provenance.
- NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_assertion wasDerivedFrom befree-20140225 NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_provenance.
- NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_assertion wasGeneratedBy ECO_0000203 NP812314.RAiVlgYC0TjjEsWxYrE9RRwg4fscfsFn459YtC_VGkgWE130_provenance.