Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance.
- NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_assertion description "[Upon screening of the genomic sequences of cardiac potassium ion channel genes, we found a single nucleotide C deletion mutation in the exon 3 of KCNH2 gene that co-segregates with the LQTS in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance.
- NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_assertion evidence source_evidence_literature NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance.
- NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_assertion SIO_000772 24015048 NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance.
- NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_assertion wasDerivedFrom befree-2016 NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance.
- NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_assertion wasGeneratedBy ECO_0000203 NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1108662.RAYiqOtIoz_Ej8LoWrTXdlu68oPMJrCNhdmXpQpMSH4Wo130_provenance.