Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_assertion> ?p ?o ?g. }
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- NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_assertion type Assertion NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_head.
- NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_assertion description "[Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_provenance.
- NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_assertion evidence source_evidence_literature NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_provenance.
- NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_assertion SIO_000772 15248101 NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_provenance.
- NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_assertion wasDerivedFrom befree-20150227 NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_provenance.
- NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_assertion wasGeneratedBy ECO_0000203 NP793986.RAf0pphUB_iUHapI8FiS4FWEzwbGCPhy0FottZSgU4vcE130_provenance.