Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion> ?p ?o ?g. }
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- NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion type Assertion NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_head.
- NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_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." NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance.
- NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion evidence source_evidence_literature NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance.
- NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion SIO_000772 21271657 NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance.
- NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion wasDerivedFrom befree-2016 NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance.
- NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion wasGeneratedBy ECO_0000203 NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance.