Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_assertion> ?p ?o ?g. }
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- NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_assertion type Assertion NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_head.
- NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_assertion description "[Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_provenance.
- NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_assertion evidence source_evidence_literature NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_provenance.
- NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_assertion SIO_000772 8598644 NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_provenance.
- NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_assertion wasDerivedFrom befree-2016 NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_provenance.
- NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_assertion wasGeneratedBy ECO_0000203 NP1347232.RAVaT9Xw8b5994ktArblihHWzq4d8B1n_Pa8C6iWC6MPM130_provenance.