Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_assertion> ?p ?o ?g. }
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- NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_assertion type Assertion NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_head.
- NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_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." NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_provenance.
- NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_assertion evidence source_evidence_literature NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_provenance.
- NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_assertion SIO_000772 23010472 NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_provenance.
- NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_assertion wasDerivedFrom befree-20150227 NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_provenance.
- NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_assertion wasGeneratedBy ECO_0000203 NP597209.RAX1ml3GEYrGBuhv7f_5Lmcnrpk_ANJC8Bk3nHs7oId_U130_provenance.