Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_assertion> ?p ?o ?g. }
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- NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_assertion type Assertion NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_head.
- NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_assertion description "[None of the patients with DOK7 mutations had tubular aggregates in the muscle biopsy, implying that 'limb-girdle myasthenia (LGM) with tubular aggregates' previously described in literature may be a pathogenic entity distinct from CMS caused by DOK7 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_provenance.
- NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_assertion evidence source_evidence_literature NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_provenance.
- NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_assertion SIO_000772 17439981 NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_provenance.
- NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_assertion wasDerivedFrom befree-20140225 NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_provenance.
- NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_assertion wasGeneratedBy ECO_0000203 NP468633.RA1vAGsyCO2YD0bJ0W1anLyn8EF8ei1K5CMuiY7UmpeXo130_provenance.