Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_assertion> ?p ?o ?g. }
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- NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_assertion type Assertion NP492399.RAT1QcyhEMR4TRQ1BLNU9Ty5PoSfXymgQlPNEY9nO8B5U130_head.
- 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.