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- source_evidence_literature type ECO_0000212 NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_provenance.
- NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_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." NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_provenance.
- NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_assertion evidence source_evidence_literature NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_provenance.
- NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_assertion SIO_000772 22189565 NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_provenance.
- NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_assertion wasDerivedFrom befree-20140225 NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_provenance.
- NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_assertion wasGeneratedBy ECO_0000203 NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP845234.RAwcaZaoh23ehK6X92WrsoEOgrl3MBgtmrXOjsNu9c1kg130_provenance.