Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_assertion> ?p ?o ?g. }
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- NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_assertion type Assertion NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_head.
- NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_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." NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_provenance.
- NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_assertion evidence source_evidence_literature NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_provenance.
- NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_assertion SIO_000772 18445049 NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_provenance.
- NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_assertion wasDerivedFrom befree-20140225 NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_provenance.
- NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_assertion wasGeneratedBy ECO_0000203 NP694396.RAv8rOTihESJEYfhTflsPA9y_guDXlTH7QOWA70mDD-bs130_provenance.