Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_assertion> ?p ?o ?g. }
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- NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_assertion type Assertion NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_head.
- NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_assertion description "[A novel mutation in the myotilin 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." NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_provenance.
- NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_assertion evidence source_evidence_literature NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_provenance.
- NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_assertion SIO_000772 16380616 NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_provenance.
- NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_assertion wasDerivedFrom lhgdn-20090331 NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_provenance.
- NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_assertion wasGeneratedBy ECO_0000203 NP134959.RAyNswSCyAwmtbALpl1vH5T1ToNbvG3z8BSHaGgNuCa_w130_provenance.