Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.
- NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_assertion description "[We here report a defect presumably affecting the splicing of precursor mRNA, resulting from a novel mutation, a G to A transition at the terminal nucleotide of intron 12, of the LDLR gene detected in three unrelated families with heterozygous FH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.
- NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_assertion evidence source_evidence_literature NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.
- NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_assertion SIO_000772 8828981 NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.
- NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_assertion wasDerivedFrom befree-2016 NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.
- NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_assertion wasGeneratedBy ECO_0000203 NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.
- befree-2016 importedOn "2016-02-19" NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.