Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance.
- NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_assertion description "[In families with ANFH, haplotype and sequence analysis of the COL2A1 gene can be used to identify carriers of the mutant allele before the onset of clinical symptoms, allowing the initiation of measures that may delay progression of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance.
- NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_assertion evidence source_evidence_curated NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance.
- NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_assertion SIO_000772 15930420 NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance.
- NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_assertion wasDerivedFrom uniprot-2016 NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance.
- NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_assertion wasGeneratedBy ECO_0000218 NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4067.RAQNbvxUo2hZhJ07_t2T38KHyK5vlDfCsrwcj1qFzv3jQ130_provenance.