Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance.
- NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_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." NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance.
- NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_assertion evidence source_evidence_literature NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance.
- NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_assertion SIO_000772 17439981 NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance.
- NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_assertion wasDerivedFrom lhgdn-20090331 NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance.
- NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_assertion wasGeneratedBy ECO_0000203 NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP213901.RAt2VAtRLzb8D4qF3i6PzJ8Ma3TMT-_GuWYca2cLi6qcE130_provenance.