Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_assertion> ?p ?o ?g. }
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- NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_assertion type Assertion NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_head.
- NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_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." NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.
- NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_assertion evidence source_evidence_curated NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.
- NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_assertion SIO_000772 17439981 NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.
- NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_assertion wasDerivedFrom uniprot-20130724 NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.
- NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_assertion wasGeneratedBy ECO_0000218 NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.