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- source_evidence_literature type ECO_0000212 NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_provenance.
- NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_assertion description "[Contrary to previous studies in patients with Charcot-Marie-Tooth disease type 2A, fibroblasts carrying the MFN2 mutation present with a respiratory chain deficiency, a fragmentation of the mitochondrial network and a significant reduction of MFN2 protein expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_provenance.
- NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_assertion evidence source_evidence_literature NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_provenance.
- NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_assertion SIO_000772 22189565 NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_provenance.
- NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_assertion wasDerivedFrom befree-2016 NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_provenance.
- NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_assertion wasGeneratedBy ECO_0000203 NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_provenance.
- befree-2016 importedOn "2016-02-19" NP948471.RAZpH1ZWu62Fn7u1rX0Oh-Hxj-1-Yn6CIO2Dv-0Xs2Iwg130_provenance.