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- source_evidence_literature type ECO_0000212 NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_provenance.
- NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_assertion description "[Our observation indicates that sialidosis should be suspected and the NEU1 gene analyzed in patients with isolated action myoclonus presenting in adulthood in the absence of other typical clinical and laboratory findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_provenance.
- NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_assertion evidence source_evidence_literature NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_provenance.
- NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_assertion SIO_000772 24808020 NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_provenance.
- NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_assertion wasDerivedFrom befree-2016 NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_provenance.
- NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_assertion wasGeneratedBy ECO_0000203 NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1180497.RA6K381RX0Tj7w-XpHxDYMFGiitiYPm-HXb3X0ZGtB_uk130_provenance.