Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- NP198116.RAVc-IxmgB7M6aqFRX5ygqJAxCm7inrfyPRc1TROBf0DQ130_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." NP198116.RAVc-IxmgB7M6aqFRX5ygqJAxCm7inrfyPRc1TROBf0DQ130_provenance.
- 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.