Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance.
- NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion description "[The two common polymorphisms c.1072G>A [p.V358M] and c.1126G>A [p.V376M] were identified among the patients, along with the silent mutation c.1191A>G. Cultured fibroblast ARSB mutant protein and residual activity were determined for each patient, and, together with genotype information, were used to predict the expected clinical severity of each MPS VI patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance.
- NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion evidence source_evidence_curated NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance.
- NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion SIO_000772 14974081 NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance.
- NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion wasDerivedFrom uniprot-20150221 NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance.
- NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion wasGeneratedBy ECO_0000218 NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance.