Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance.
- NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_assertion description "[We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase (MUSK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance.
- NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_assertion evidence source_evidence_literature NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance.
- NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_assertion SIO_000772 20371544 NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance.
- NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_assertion wasDerivedFrom befree-20150227 NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance.
- NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_assertion wasGeneratedBy ECO_0000203 NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_provenance.