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- source_evidence_literature type ECO_0000212 NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_provenance.
- NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_assertion description "[Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_provenance.
- NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_assertion evidence source_evidence_literature NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_provenance.
- NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_assertion SIO_000772 22022284 NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_provenance.
- NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_assertion wasDerivedFrom befree-2016 NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_provenance.
- NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_assertion wasGeneratedBy ECO_0000203 NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_provenance.
- befree-2016 importedOn "2016-02-19" NP933166.RAVp8SkyG2nJ00jAJIlmkkAnU8zoyzkjtxlb73ScoxxKE130_provenance.