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- source_evidence_literature type ECO_0000212 NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_provenance.
- NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_assertion description "[The authors describe a 28-year-old woman with histopathologically confirmed early onset Alzheimer disease characterized by severe frontal lobe involvement associated with a de novo mutation in the presenilin 1 gene (PSEN1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_provenance.
- NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_assertion evidence source_evidence_literature NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_provenance.
- NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_assertion SIO_000772 14581682 NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_provenance.
- NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_assertion wasDerivedFrom befree-2016 NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_provenance.
- NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_assertion wasGeneratedBy ECO_0000203 NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_provenance.
- befree-2016 importedOn "2016-02-19" NP418449.RAhV213AmND4rG_h6FkR9enmPGusgIFaeEvoNCx4ER1h8130_provenance.