Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_assertion> ?p ?o ?g. }
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- NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_assertion type Assertion NP889705.RAXwJ_OGicHKUHKlBo5JbVk8X1TBSTEwYyYIjTxxmIZbM130_head.
- 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.