Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance.
- NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_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." NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance.
- NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_assertion evidence source_evidence_literature NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance.
- NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_assertion SIO_000772 11463728 NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance.
- NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_assertion wasDerivedFrom befree-2016 NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance.
- NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_assertion wasGeneratedBy ECO_0000203 NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance.
- befree-2016 importedOn "2016-02-19" NP324539.RAhHZnagMZm6RJUf5Lffs4u0y3V41h6TUCi5BhxwN-jW0130_provenance.