Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_assertion> ?p ?o ?g. }
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- NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_assertion type Assertion NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_head.
- NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_assertion description "[ABCA 4 mutations are responsible for a large variety of retinal degenerations including all cases of Stargardt macular dystrophy and fundus flavimaculatus, some forms of cone-rod degeneration, and retinitis pigmentosa, and likely increase the risk of developing age-related macular degeneration (AMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_provenance.
- NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_assertion evidence source_evidence_literature NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_provenance.
- NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_assertion SIO_000772 12789571 NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_provenance.
- NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_assertion wasDerivedFrom befree-2016 NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_provenance.
- NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_assertion wasGeneratedBy ECO_0000203 NP397081.RALQtntpyG4SHQDb4UNC_phRT-DUvcHpdmP2tGqbCxIh4130_provenance.