Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_assertion type Assertion NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_head.
- NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_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." NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_provenance.
- NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_assertion evidence source_evidence_literature NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_provenance.
- NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_assertion SIO_000772 22132097 NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_provenance.
- NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_assertion wasDerivedFrom befree-20140225 NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_provenance.
- NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_assertion wasGeneratedBy ECO_0000203 NP534384.RAX75VFu9B1zIT5nhXEnWLel6yyIRhg06fBa50PyYWqGE130_provenance.