Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_assertion type Assertion NP607465.RA7OL77jrc-lU6kdStTHfvYx091QGQ3cY_6CmxtqP1oTo130_head.
- 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.