Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.
- 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.
- uniprot-20130724 importedOn "2013-07-24" NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.