Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_assertion> ?p ?o ?g. }
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- NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_assertion type Assertion NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_head.
- NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_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." NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_provenance.
- NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_assertion evidence source_evidence_literature NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_provenance.
- NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_assertion SIO_000772 23010472 NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_provenance.
- NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_assertion wasDerivedFrom befree-20150227 NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_provenance.
- NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_assertion wasGeneratedBy ECO_0000203 NP847776.RA4h1Pbp5dhua7NpPc8akiQZeT_IuLT7eWLMVpCLcdEVs130_provenance.