Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1412636.RARSaU6SMa0EQzCGMVboJ8t-i9j3cUu6ECtIs55Bf5mu4#assertion> ?p ?o ?g. }
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- assertion description "[A lethal form of nemaline myopathy, named 'Amish Nemaline Myopathy' (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 12732643 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.