Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance.
- NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_assertion description "[In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance.
- NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_assertion evidence source_evidence_literature NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance.
- NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_assertion SIO_000772 16632484 NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance.
- NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_assertion wasDerivedFrom befree-20140225 NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance.
- NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_assertion wasGeneratedBy ECO_0000203 NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP774935.RAFyHBjXoKv1N5whUq6JqISKThrZaYyvJk74Hom6A4BZY130_provenance.