Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance.
- NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_assertion description "[We have identified a novel mutation L1425P in exon 25 of the NF1 gene in a 12-year-old boy (clinically diagnosed with NF1 at the age of 7).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance.
- NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_assertion evidence source_evidence_curated NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance.
- NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_assertion SIO_000772 10220149 NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance.
- NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_assertion wasDerivedFrom uniprot-2016 NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance.
- NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_assertion wasGeneratedBy ECO_0000218 NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP139.RAVG9nSf95fqXkadnULuUfYLQSmTIWMEQbL-4deGuq68I130_provenance.