Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.
- NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_assertion wasGeneratedBy ECO_0000218 NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.
- NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_assertion wasDerivedFrom uniprot-20130724 NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.
- NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_assertion SIO_000772 16533976 NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.
- NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_assertion evidence source_evidence_curated NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.
- NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_assertion description "[Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.