Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance.
- befree-2016 importedOn "2016-02-19" NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance.
- NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_assertion wasGeneratedBy ECO_0000203 NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance.
- NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_assertion wasDerivedFrom befree-2016 NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance.
- NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_assertion SIO_000772 16892407 NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance.
- NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_assertion evidence source_evidence_literature NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance.
- NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_assertion description "[We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP563135.RA_aVQy2G7KUeg_5IYpioDnjh68ny4lUvfcJuP2wJZHqA130_provenance.