Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_assertion> ?p ?o ?g. }
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- NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_assertion type Assertion NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_head.
- NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_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." NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_provenance.
- NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_assertion evidence source_evidence_literature NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_provenance.
- NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_assertion SIO_000772 16380616 NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_provenance.
- NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_assertion wasDerivedFrom lhgdn-20090331 NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_provenance.
- NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_assertion wasGeneratedBy ECO_0000203 NP208558.RAlie_BBLlkCv68q_Kl5jDg6mf5y5r-0-9QN6FDsWBWf0130_provenance.