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- source_evidence_literature type ECO_0000212 NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_provenance.
- NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_assertion wasGeneratedBy ECO_0000203 NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_provenance.
- NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_assertion wasDerivedFrom befree-20150227 NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_provenance.
- NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_assertion SIO_000772 16543359 NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_provenance.
- NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_assertion evidence source_evidence_literature NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_provenance.
- NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_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." NP708010.RAKRLuJMPsEy9HAnexo9ZC0BodnU6-pWIZ14pJBHdGExU130_provenance.