Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.
- NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_assertion wasGeneratedBy ECO_0000218 NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.
- NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_assertion wasDerivedFrom uniprot-20130724 NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.
- NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_assertion SIO_000772 9741700 NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.
- NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_assertion evidence source_evidence_curated NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.
- NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_assertion description "[Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.