Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1188557.RA9Rlm_IzBxZzwNTI9-IKPDqCWz_PucbTHZTGVI805tuY#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion description "[A novel mutation in the myotilin gene results in the clinical and pathologic phenotype termed " spheroid body myopathy." Mutations in this gene also cause limb-girdle muscular dystrophy 1A and are associated with myofibrillar myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16380616 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.