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- source_evidence_literature type ECO_0000212 NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_provenance.
- NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_assertion wasGeneratedBy ECO_0000203 NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_provenance.
- NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_assertion wasDerivedFrom befree-20140225 NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_provenance.
- NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_assertion SIO_000772 17878719 NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_provenance.
- NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_assertion evidence source_evidence_literature NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_provenance.
- NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_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." NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP738555.RA6j_vbHNvsLeIerrq13XTYHTDBvy7alyUBuBeFIAGtGI130_provenance.