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- source_evidence_literature type ECO_0000212 NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_provenance.
- NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_assertion wasGeneratedBy ECO_0000203 NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_provenance.
- NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_assertion wasDerivedFrom befree-20150227 NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_provenance.
- NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_assertion SIO_000772 17878719 NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_provenance.
- NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_assertion evidence source_evidence_literature NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_provenance.
- NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_assertion description "[Neurological diagnostic workup in these patients revealed weakness, wasting, reduced/exaggerated tendon reflexes, abnormal nerve conduction and electromyography, muscle biopsy with ragged red muscle fibers, reduced COX staining, decreased complex I respiratory chain activity, abnormally structured mitochondria, or mitochondrial DNA (mtDNA) mutations, such as G5650A in the tRNAAla gene, or various other mtDNA substitutions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP822019.RAqhSpKtRNcyluciHFNPW4OnIpXDi38nYpEAih4gdOlwI130_provenance.