Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_assertion> ?p ?o ?g. }
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- NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_assertion type Assertion NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_head.
- NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_assertion description "[Specifically, we detected pathogenic DNA variants (?50% novel mutations) in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_provenance.
- NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_assertion evidence source_evidence_literature NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_provenance.
- NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_assertion SIO_000772 23940504 NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_provenance.
- NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_assertion wasDerivedFrom befree-20140225 NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_provenance.
- NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_assertion wasGeneratedBy ECO_0000203 NP226843.RA8yTM6EAQHA8eQ6XmmgxR-tb_7ni-bTQ41eIJQNFtcC8130_provenance.