Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion> ?p ?o ?g. }
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- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion type Assertion NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_head.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion wasGeneratedBy ECO_0000203 NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion wasDerivedFrom befree-2016 NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion SIO_000772 23403440 NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion evidence source_evidence_literature NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion description "[LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.