Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance.
- NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_assertion description "[Heterozygous mutations in genes encoding cardiac ionic channel subunits KCNQ1, HERG, SCN5A, KCNE1, and KCNE2 are causally involved in the dominant form of long-QT syndrome (LQTS) while homozygous mutations in KCNQ1 and KCNE1 cause LQTS with or without congenital deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance.
- NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_assertion evidence source_evidence_literature NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance.
- NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_assertion SIO_000772 11463728 NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance.
- NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_assertion wasDerivedFrom befree-20150227 NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance.
- NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_assertion wasGeneratedBy ECO_0000203 NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_provenance.