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- source_evidence_literature type ECO_0000212 NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_provenance.
- NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_assertion description "[The 5 new diagnoses implicated 2 genes associated with canonical mitochondrial disorders (NDUFV1, POLG2), and 3 genes known to underlie other neurologic disorders (DPYD, KARS, WFS1), underscoring the phenotypic and biochemical overlap with other inborn errors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_provenance.
- NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_assertion evidence source_evidence_literature NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_provenance.
- NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_assertion SIO_000772 23596069 NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_provenance.
- NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_assertion wasDerivedFrom befree-2016 NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_provenance.
- NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_assertion wasGeneratedBy ECO_0000203 NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1070524.RAB2PPEY_ELzX9qCXy7NrF6nLF1Fxh4CuIMAcRh5zcKG4130_provenance.