Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance.
- NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_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." NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance.
- NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_assertion evidence source_evidence_literature NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance.
- NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_assertion SIO_000772 18445049 NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance.
- NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_assertion wasDerivedFrom befree-20140225 NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance.
- NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_assertion wasGeneratedBy ECO_0000203 NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance.
- befree-20140225 importedOn "2014-02-25" NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance.