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- source_evidence_literature type ECO_0000212 NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_provenance.
- NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_assertion description "[To investigate whether mutation of a gene in proximity to the chromosome 2 breakpoint underlies the SHFLD, we sought independent evidence of mutations in GLI2, INHBB and two other genes (RALB and FLJ14816) in 44 unrelated patients with SHFM, SHFLD or isolated long bone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_provenance.
- NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_assertion evidence source_evidence_literature NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_provenance.
- NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_assertion SIO_000772 17569090 NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_provenance.
- NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_assertion wasDerivedFrom befree-20150227 NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_provenance.
- NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_assertion wasGeneratedBy ECO_0000203 NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP958588.RAVx6iler5KdcYVeGpE0MWN1h_0peDlDaEA1ZA4lEzTwY130_provenance.