Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion> ?p ?o ?g. }
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- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion type Assertion NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_head.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_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." NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion evidence source_evidence_literature NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion SIO_000772 19002209 NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion wasDerivedFrom befree-20140225 NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion wasGeneratedBy ECO_0000203 NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.