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- source_evidence_literature type ECO_0000212 NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_provenance.
- befree-2016 importedOn "2016-02-19" NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_provenance.
- NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_assertion wasGeneratedBy ECO_0000203 NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_provenance.
- NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_assertion wasDerivedFrom befree-2016 NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_provenance.
- NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_assertion SIO_000772 16543359 NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_provenance.
- NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_assertion evidence source_evidence_literature NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_provenance.
- NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_assertion description "[SOX2 mutations are known to cause severe bilateral eye malformations but this is the first report implicating loss of function mutations in this transcription factor in oesophageal malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540759.RAw1PPw0QjOrSEwBSqe2QkjUHWLn28-LUb2uC_NxeByBs130_provenance.