Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_assertion> ?p ?o ?g. }
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- NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_assertion type Assertion NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_head.
- NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_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." NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_provenance.
- NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_assertion evidence source_evidence_literature NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_provenance.
- NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_assertion SIO_000772 18445049 NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_provenance.
- NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_assertion wasDerivedFrom befree-20150227 NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_provenance.
- NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_assertion wasGeneratedBy ECO_0000203 NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_provenance.