Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_assertion> ?p ?o ?g. }
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- NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_assertion type Assertion NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_head.
- NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_assertion description "[We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them being de novo (exon 2) and the other one being inherited from his mother (exons 3-5).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_provenance.
- NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_assertion evidence source_evidence_literature NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_provenance.
- NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_assertion SIO_000772 21271657 NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_provenance.
- NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_assertion wasDerivedFrom befree-20140225 NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_provenance.
- NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_assertion wasGeneratedBy ECO_0000203 NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_provenance.