Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_assertion> ?p ?o ?g. }
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- NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_assertion type Assertion NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_head.
- NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_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." NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_provenance.
- NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_assertion evidence source_evidence_literature NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_provenance.
- NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_assertion SIO_000772 15248101 NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_provenance.
- NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_assertion wasDerivedFrom befree-20150227 NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_provenance.
- NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_assertion wasGeneratedBy ECO_0000203 NP220665.RAa8Mm8ANw9_SM30wLN1nf6ZO3ocM3rqAA5ZKcbY_u6ls130_provenance.