Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_assertion> ?p ?o ?g. }
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- NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_assertion type Assertion NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_head.
- NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_assertion description "[None of the patients with DOK7 mutations had tubular aggregates in the muscle biopsy, implying that 'limb-girdle myasthenia (LGM) with tubular aggregates' previously described in literature may be a pathogenic entity distinct from CMS caused by DOK7 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_provenance.
- NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_assertion evidence source_evidence_literature NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_provenance.
- NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_assertion SIO_000772 17439981 NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_provenance.
- NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_assertion wasDerivedFrom befree-2016 NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_provenance.
- NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_assertion wasGeneratedBy ECO_0000203 NP605028.RAXWJw0cuU1vkon5QVx11srQPKsk1hM-1SdacLW2WaYjA130_provenance.