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- source_evidence_literature type ECO_0000212 NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_provenance.
- NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_assertion description "[A heterozygous G-to-A mutation at position 3823 (D1275N) in a highly conserved residue of exon 21 is associated with an autosomal dominant cardiac conduction disorder, sinus node dysfunction, arrhythmia, ventricular dilatation & dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_provenance.
- NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_assertion evidence source_evidence_literature NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_provenance.
- NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_assertion SIO_000772 15466643 NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_provenance.
- NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_assertion wasDerivedFrom lhgdn-20090331 NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_provenance.
- NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_assertion wasGeneratedBy ECO_0000203 NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP206869.RAFHtEhdVtg7ShOYe7-kyD1BNuznquSZBC5Qwjlb1t0OY130_provenance.