Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_assertion type Assertion NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_head.
- NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_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." NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_provenance.
- NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_assertion evidence source_evidence_literature NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_provenance.
- NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_assertion SIO_000772 18571946 NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_provenance.
- NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_assertion wasDerivedFrom befree-20140225 NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_provenance.
- NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_assertion wasGeneratedBy ECO_0000203 NP254912.RAG5YTQp1JXj82z8BVlP8b9en7Nq2ELyFaicSgym9MElY130_provenance.