Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance.
- NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion wasGeneratedBy ECO_0000203 NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance.
- NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion wasDerivedFrom befree-20140225 NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance.
- NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion SIO_000772 16543359 NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance.
- NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion evidence source_evidence_literature NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance.
- NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion description "[A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance.
- befree-20140225 importedOn "2014-02-25" NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance.