Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance.
- NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_assertion description "[Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance.
- NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_assertion evidence source_evidence_literature NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance.
- NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_assertion SIO_000772 18445049 NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance.
- NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_assertion wasDerivedFrom befree-20140225 NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance.
- NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_assertion wasGeneratedBy ECO_0000203 NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_provenance.