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- source_evidence_literature type ECO_0000212 NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_provenance.
- NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_assertion description "[Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive condition unlinked to mutations in SMN1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_provenance.
- NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_assertion evidence source_evidence_literature NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_provenance.
- NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_assertion SIO_000772 22703880 NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_provenance.
- NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_assertion wasDerivedFrom befree-2016 NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_provenance.
- NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_assertion wasGeneratedBy ECO_0000203 NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_provenance.
- befree-2016 importedOn "2016-02-19" NP990504.RASjtQHoGa-vs8Yyl5eCxjk3SO1DVaq2ChdI0tOkvhC84130_provenance.