Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_assertion type Assertion NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_head.
- NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_assertion description "[Lafora disease (LD) is the inherited progressive myoclonus epilepsy caused by mutations in either EPM2A gene, encoding the protein phosphatase laforin or the NHLRC1 gene, encoding the ubiquitin ligase malin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_provenance.
- NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_assertion evidence source_evidence_literature NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_provenance.
- NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_assertion SIO_000772 21742036 NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_provenance.
- NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_assertion wasDerivedFrom befree-2016 NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_provenance.
- NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_assertion wasGeneratedBy ECO_0000203 NP908386.RAvFzLUve3GXN0U1eWAO25Jn4fup_DhJ3AxsHDwRIkTV4130_provenance.