Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_assertion> ?p ?o ?g. }
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- NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_assertion type Assertion NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_head.
- NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_assertion description "[A novel mutation in the TTID gene results in the clinical and pathologic phenotype termed `spheroid body myopathy.` Mutations in this gene also cause limb-girdle muscular dystrophy 1A and are associated with myofibrillar myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_provenance.
- NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_assertion evidence source_evidence_literature NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_provenance.
- NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_assertion SIO_000772 16380616 NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_provenance.
- NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_assertion wasDerivedFrom befree-20140225 NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_provenance.
- NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_assertion wasGeneratedBy ECO_0000203 NP369004.RADl8ZGdJcu4M0PlTgEqsAbAYwN6SM7orqf11Ozr3oQFo130_provenance.