Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance.
- NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_assertion description "[study of patients with congenital myasthenic syndromes with mutations in DOK7; none with DOK7 mutations had tubular aggregates in muscle biopsy, implying'limb-girdle myasthenia with tubular aggregates'may be distinct from CMS caused by DOK7 mutations ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance.
- NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_assertion evidence source_evidence_literature NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance.
- NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_assertion SIO_000772 17439981 NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance.
- NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_assertion wasDerivedFrom lhgdn-20090331 NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance.
- NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_assertion wasGeneratedBy ECO_0000203 NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP150783.RAtO9iXqBqbr1ExhPyGUu2vGTCEXMJcllhCrVDX11M3xQ130_provenance.