Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_assertion> ?p ?o ?g. }
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- NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_assertion type Assertion NP523243.RA4vSGkjGwv-0eqlmLnXevdTmVX2g8BuQ3Or9NmZeR6jo130_head.
- 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.