Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion> ?p ?o ?g. }
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- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion type Assertion NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_head.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion wasGeneratedBy ECO_0000203 NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion wasDerivedFrom befree-2016 NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion SIO_000772 9633819 NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion evidence source_evidence_literature NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion description "[Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.