Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_assertion> ?p ?o ?g. }
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- NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_assertion type Assertion NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_head.
- NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_assertion description "[Three mutations (ORF15 + 483_484delGA, ORF15 + 652_653delAG, and ORF15 + 650_653delAGAG) in RPGR were identified in four families with XLRP, while two mutations (c.353G>A and c.103_1053del) in RP2 were detected in two families with retinitis pigmentosa (RP) and high myopia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_provenance.
- NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_assertion evidence source_evidence_literature NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_provenance.
- NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_assertion SIO_000772 20021257 NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_provenance.
- NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_assertion wasDerivedFrom befree-20140225 NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_provenance.
- NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_assertion wasGeneratedBy ECO_0000203 NP379000.RAZqhBR-HCJ4ZAO5vxUbIY_svLnaR5b73bRDPXN8me5Vc130_provenance.