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- source_evidence_literature type ECO_0000212 NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_provenance.
- befree-2016 importedOn "2016-02-19" NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_provenance.
- NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_assertion wasGeneratedBy ECO_0000203 NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_provenance.
- NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_assertion wasDerivedFrom befree-2016 NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_provenance.
- NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_assertion SIO_000772 12873860 NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_provenance.
- NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_assertion evidence source_evidence_literature NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_provenance.
- NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_assertion description "[These results document the importance of screening the TK2 gene in patients with myopathic mitochondrial DNA depletion syndrome and confirm that exon 5 is a hot spot for TK2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP402610.RAE252V3s7PJcKM3Usfb5ecgmhaivqD1rNN3Gh6DeuebI130_provenance.