Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_assertion> ?p ?o ?g. }
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- NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_assertion type Assertion NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_head.
- NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_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." NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_provenance.
- NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_assertion evidence source_evidence_literature NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_provenance.
- NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_assertion SIO_000772 22132097 NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_provenance.
- NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_assertion wasDerivedFrom befree-2016 NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_provenance.
- NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_assertion wasGeneratedBy ECO_0000203 NP943143.RAW3uQP6aRn5g8uemHRBJO6bvt293qhUDw6X0rYIKbucU130_provenance.