Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance.
- NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_assertion description "[Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance.
- NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_assertion evidence source_evidence_curated NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance.
- NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_assertion SIO_000772 10745044 NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance.
- NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_assertion wasDerivedFrom uniprot-2016 NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance.
- NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_assertion wasGeneratedBy ECO_0000218 NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP740.RAWn9fTmSao7bI9TomcQO1V0YBEoUswFlemnkhim16Iek130_provenance.