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- source_evidence_literature type ECO_0000212 NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_provenance.
- NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_assertion description "[Finally OPA1 missense mutations are involved in phenotypes presenting optic atrophy as a major feature.To define the relative contribution of POLG1, POLG2, ANT1 and PEO1 genes to the mtDNA multiple deletion syndromes, we analysed them in a cohort of 67 probands showing accumulation of multiple mtDNA deletions in muscle.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_provenance.
- NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_assertion evidence source_evidence_literature NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_provenance.
- NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_assertion SIO_000772 18575922 NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_provenance.
- NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_assertion wasDerivedFrom befree-20140225 NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_provenance.
- NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_assertion wasGeneratedBy ECO_0000203 NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_provenance.
- befree-20140225 importedOn "2014-02-25" NP751331.RAs6hNj33ToYqCn-Zk-CQXZCS_uh3cKMi1P2OokNcZk-o130_provenance.