Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance.
- NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_assertion description "[STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by gain-of-function mutations in TMEM173.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance.
- NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_assertion evidence source_evidence_curated NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance.
- NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_assertion SIO_000772 25029335 NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance.
- NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_assertion wasDerivedFrom uniprot-2016 NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance.
- NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_assertion wasGeneratedBy ECO_0000218 NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7950.RAbgnoBjYxWTQE7IguVfZV__hY5Y5yK4OLUHHYrxY4lPw130_provenance.