Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance.
- NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_assertion description "[Congenital myasthenic syndromes (CMS) with deficiency of endplate acetylcholinesterase (AChE) are caused by mutations in the synapse specific collagenic tail subunit gene (COLQ) of AChE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance.
- NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_assertion evidence source_evidence_literature NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance.
- NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_assertion SIO_000772 15248101 NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance.
- NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_assertion wasDerivedFrom befree-2016 NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance.
- NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_assertion wasGeneratedBy ECO_0000203 NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance.
- befree-2016 importedOn "2016-02-19" NP451621.RAXkNz3XZKclgI6QYLX7Bj1bafM5NRP1TNwCkAagD44ZE130_provenance.