Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_assertion type Assertion NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_head.
- NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_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." NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_provenance.
- NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_assertion evidence source_evidence_literature NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_provenance.
- NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_assertion SIO_000772 11463728 NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_provenance.
- NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_assertion wasDerivedFrom befree-20140225 NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_provenance.
- NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_assertion wasGeneratedBy ECO_0000203 NP343242.RACIHcyQz22r9B1umOrV-l2DlUeGtDSYF04ccyrJFB5p8130_provenance.