Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP724258.RANeGJ4MnE_zVE28I1N7Z87sVLpihZSf51CLY2F_IDgUo#assertion> ?p ?o ?g. }
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- assertion description "[Myotubularin (hMTM1), the founder member, is mutated in myotubular myopathy, and a close homolog (hMTMR2) was recently found mutated in a recessive form of Charcot-Marie-Tooth neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 11275328 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.