Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_assertion> ?p ?o ?g. }
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- NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_assertion type Assertion NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_head.
- NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_assertion wasGeneratedBy ECO_0000203 NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_provenance.
- NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_assertion wasDerivedFrom befree-20140225 NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_provenance.
- NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_assertion SIO_000772 18371931 NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_provenance.
- NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_assertion evidence source_evidence_literature NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_provenance.
- NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_assertion description "[We recently reported hypomorphic NPHP3 mutations in children and young adults with isolated nephronophthisis and associated hepatic fibrosis or tapetoretinal degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP781504.RAPM12MeKofIR9t3LOr3ypxC9G65sAxMOa5w1H7F2gGII130_provenance.