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- source_evidence_literature type ECO_0000212 NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_provenance.
- NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_assertion description "[Niemann-Pick type C disease (NPC), a neurovisceral disorder characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system, is due to mutations on either the NPC1 or the NPC2 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_provenance.
- NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_assertion evidence source_evidence_literature NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_provenance.
- NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_assertion SIO_000772 17470133 NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_provenance.
- NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_assertion wasDerivedFrom befree-2016 NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_provenance.
- NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_assertion wasGeneratedBy ECO_0000203 NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_provenance.
- befree-2016 importedOn "2016-02-19" NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_provenance.