Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_assertion> ?p ?o ?g. }
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- NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_assertion type Assertion NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_head.
- NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_assertion description "[In the current study, we report the identification of a novel disease-causing mutation in the ASAH1 gene that results in Farber disease in an Indian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_provenance.
- NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_assertion evidence source_evidence_literature NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_provenance.
- NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_assertion SIO_000772 16951918 NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_provenance.
- NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_assertion wasDerivedFrom befree-2016 NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_provenance.
- NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_assertion wasGeneratedBy ECO_0000203 NP567638.RAF8XVIWK0GiCxZdqX9xeMXG-Sb9GckkDl2JlglGC5fVc130_provenance.