Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance.
- NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_assertion description "[Evaluation of a total of seven families affected by DA5D revealed in five families ECEL1 mutations that explain ~70% of cases overall.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance.
- NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_assertion evidence source_evidence_curated NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance.
- NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_assertion SIO_000772 23261301 NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance.
- NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_assertion wasDerivedFrom uniprot-2016 NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance.
- NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_assertion wasGeneratedBy ECO_0000218 NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7307.RAmGgA5DVwEn1UcHdzCJGMgVkeyM5u0YzLbtNgF_MZJfI130_provenance.