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- source_evidence_literature type ECO_0000212 NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_provenance.
- NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_assertion description "[Here we describe a term neonate with ACD that was found with a previously unreported p.Arg86Pro mutation in the FOXF1 (Forkhead Box-F1) gene and coexisting congenital anomalies, including colobomas of the iris and hemihyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_provenance.
- NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_assertion evidence source_evidence_literature NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_provenance.
- NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_assertion SIO_000772 25627281 NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_provenance.
- NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_assertion wasDerivedFrom befree-2016 NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_provenance.
- NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_assertion wasGeneratedBy ECO_0000203 NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1258929.RA-sUhs88kDGQEDADBbzO5FjIUDukF9Qt4zN6gewFslqM130_provenance.