Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_assertion type Assertion NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_head.
- 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.