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- source_evidence_literature type ECO_0000212 NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_provenance.
- NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_assertion description "[The human lysosomal enzyme occurs in complex with beta-galactosidase and protective protein/cathepsin A (PPCA), and is deficient in two genetic disorders: sialidosis, caused by a structural defect in the neuraminidase gene, and galactosialidosis, in which the loss of neuraminidase activity is secondary to a deficiency of PPCA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_provenance.
- NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_assertion evidence source_evidence_literature NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_provenance.
- NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_assertion SIO_000772 8985184 NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_provenance.
- NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_assertion wasDerivedFrom befree-20140225 NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_provenance.
- NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_assertion wasGeneratedBy ECO_0000203 NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_provenance.
- befree-20140225 importedOn "2014-02-25" NP469140.RAxxjsJdOI2lsumW_cW_W31rWMgBq_6NwWcVEg5OOZ9ek130_provenance.