Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_assertion> ?p ?o ?g. }
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- NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_assertion type Assertion NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_head.
- NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_assertion description "[A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_provenance.
- NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_assertion evidence source_evidence_literature NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_provenance.
- NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_assertion SIO_000772 22132097 NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_provenance.
- NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_assertion wasDerivedFrom befree-20150227 NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_provenance.
- NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_assertion wasGeneratedBy ECO_0000203 NP443145.RALyxi23JZuGSSTNJ3bkDJSRn08OPK68qRRiYOHgSniuc130_provenance.