Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_assertion> ?p ?o ?g. }
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- NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_assertion type Assertion NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_head.
- NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_assertion description "[Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_provenance.
- NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_assertion evidence source_evidence_literature NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_provenance.
- NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_assertion SIO_000772 18571946 NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_provenance.
- NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_assertion wasDerivedFrom befree-2016 NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_provenance.
- NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_assertion wasGeneratedBy ECO_0000203 NP678165.RAvFdhZ8MTn2HKSsIJ-AOSTC5V7hY3Y3x7ZNMU6Ds8a6g130_provenance.