Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion> ?p ?o ?g. }
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- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion type Assertion NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_head.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion description "[Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion evidence source_evidence_literature NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion SIO_000772 7544125 NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion wasDerivedFrom befree-2016 NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.
- NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_assertion wasGeneratedBy ECO_0000203 NP1311824.RAvDV_hc55eIzEaNJiEHkJhwf0sqzPbNGTVdkrpytZnmA130_provenance.