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- source_evidence_literature type ECO_0000212 NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_provenance.
- NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_assertion description "[We report a novel 14724G>A mutation in the mitochondrial tRNA glutamic acid gene in a 4-year-old boy with myopathy and leukoencephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_provenance.
- NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_assertion evidence source_evidence_literature NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_provenance.
- NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_assertion SIO_000772 17266923 NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_provenance.
- NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_assertion wasDerivedFrom befree-20140225 NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_provenance.
- NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_assertion wasGeneratedBy ECO_0000203 NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_provenance.
- befree-20140225 importedOn "2014-02-25" NP456632.RAz3-4appS_F8TuW7Z_pedNgduq1d04C7XgxlJwShMi6k130_provenance.