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- source_evidence_literature type ECO_0000212 NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_provenance.
- NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_assertion description "[We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_provenance.
- NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_assertion evidence source_evidence_literature NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_provenance.
- NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_assertion SIO_000772 7539672 NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_provenance.
- NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_assertion wasDerivedFrom befree-20140225 NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_provenance.
- NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_assertion wasGeneratedBy ECO_0000203 NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_provenance.
- befree-20140225 importedOn "2014-02-25" NP494792.RACWGjEZwyhZ0NMUS7r-2PCB8SnAHh8tI58eHtIf_4W2c130_provenance.