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- source_evidence_literature type ECO_0000212 NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_provenance.
- NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_assertion description "[Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_provenance.
- NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_assertion evidence source_evidence_literature NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_provenance.
- NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_assertion SIO_000772 22842229 NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_provenance.
- NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_assertion wasDerivedFrom befree-20150227 NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_provenance.
- NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_assertion wasGeneratedBy ECO_0000203 NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP939997.RAlV4duxhRQ1bWi11_J1UUz8HBq82Aq6fb_VC4S1daeEc130_provenance.