Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_assertion> ?p ?o ?g. }
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- NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_assertion type Assertion NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_head.
- NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_assertion description "[Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_provenance.
- NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_assertion evidence source_evidence_literature NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_provenance.
- NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_assertion SIO_000772 24183479 NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_provenance.
- NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_assertion wasDerivedFrom befree-2016 NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_provenance.
- NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_assertion wasGeneratedBy ECO_0000203 NP1124311.RAfnrK3JpBoQ42MAxFBxq0PmWG5ZhxKKoO8OSRSp5aA4Q130_provenance.