Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_assertion> ?p ?o ?g. }
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- NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_assertion type Assertion NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_head.
- NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_assertion description "[In addition, reduced COL17A1 expression was found in a second nH-JEB patient who was homozygous for the novel PTC mutation 4335delC, the most carboxyl terminal PTC mutation thus far identified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_provenance.
- NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_assertion evidence source_evidence_literature NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_provenance.
- NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_assertion SIO_000772 16820943 NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_provenance.
- NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_assertion wasDerivedFrom befree-20140225 NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_provenance.
- NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_assertion wasGeneratedBy ECO_0000203 NP191431.RAKutldSTuesgwuqSegqh5ZHUUHu7eTbNF6Qa0CpvcQH4130_provenance.