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- source_evidence_literature type ECO_0000212 NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_provenance.
- NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_assertion description "[Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_provenance.
- NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_assertion evidence source_evidence_literature NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_provenance.
- NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_assertion SIO_000772 19837926 NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_provenance.
- NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_assertion wasDerivedFrom befree-2016 NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_provenance.
- NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_assertion wasGeneratedBy ECO_0000203 NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_provenance.
- befree-2016 importedOn "2016-02-19" NP769947.RAojm9GFKZynsimvx6DU9nPdDvC3nZNpGuLjV_RUR_i_I130_provenance.