Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance.
- NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_assertion wasGeneratedBy ECO_0000218 NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance.
- NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_assertion wasDerivedFrom uniprot-2016 NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance.
- NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_assertion SIO_000772 9633819 NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance.
- NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_assertion evidence source_evidence_curated NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance.
- NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_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." NP9788.RA2luIvWZNTc9uf6oYCzP12wSZ7Dup-7zr0VgX7gZ5V24130_provenance.