Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance.
- NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_assertion description "[Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance.
- NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_assertion evidence source_evidence_curated NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance.
- NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_assertion SIO_000772 25342064 NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance.
- NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_assertion wasDerivedFrom uniprot-2016 NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance.
- NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_assertion wasGeneratedBy ECO_0000218 NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8042.RAn7wY6sYleLlcilcK43u12LQhMhcFYDa-RWsj1bGY6rU130_provenance.