Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance.
- NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_assertion description "[We found that a mutation previously described by Sebastio et al., involving a 68-bp insertion in the coding region of exon 8 of the cystathionine-beta-synthase (CBS) gene in a single patient with homocystinuria, is highly prevalent.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance.
- NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_assertion evidence source_evidence_literature NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance.
- NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_assertion SIO_000772 8940271 NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance.
- NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_assertion wasDerivedFrom befree-2016 NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance.
- NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_assertion wasGeneratedBy ECO_0000203 NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1363270.RAUSG99aLcKsD9i63UCZhcd2LQqwNF2yDBjhQtYhfz9P4130_provenance.