Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_assertion> ?p ?o ?g. }
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- NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_assertion type Assertion NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_head.
- NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_assertion description "[Niemann-Pick type C is a lysosomal storage disease associated with mutations in NPC1 or NPC2, resulting in an accumulation of cholesterol in the endosomal-lysosomal system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_provenance.
- NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_assertion evidence source_evidence_literature NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_provenance.
- NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_assertion SIO_000772 23010472 NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_provenance.
- NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_assertion wasDerivedFrom befree-20150227 NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_provenance.
- NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_assertion wasGeneratedBy ECO_0000203 NP982214.RAPzRxqgxG3P5J53sOcb6le1epIeVEUsICT3qzmw4GL6E130_provenance.