Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_assertion> ?p ?o ?g. }
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- NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_assertion type Assertion NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_head.
- NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_assertion description "[To describe a three-generation family with distal arthrogryposis associated with myopathy and caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I, TNNI2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_provenance.
- NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_assertion evidence source_evidence_literature NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_provenance.
- NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_assertion SIO_000772 16924011 NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_provenance.
- NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_assertion wasDerivedFrom befree-20150227 NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_provenance.
- NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_assertion wasGeneratedBy ECO_0000203 NP748552.RA0WE-qWdGJe42glmpAap45C6EQ_X4RkBZVvnT-KAkOlc130_provenance.