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- source_evidence_literature type ECO_0000212 NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_provenance.
- NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_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." NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_provenance.
- NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_assertion evidence source_evidence_literature NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_provenance.
- NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_assertion SIO_000772 17439981 NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_provenance.
- NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_assertion wasDerivedFrom befree-20150227 NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_provenance.
- NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_assertion wasGeneratedBy ECO_0000203 NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP984599.RAw9hjNt-WgHOl_6w0bsX1ohAzPudqfusosjtxxpzf2XQ130_provenance.