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- source_evidence_literature type ECO_0000212 NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_provenance.
- befree-2016 importedOn "2016-02-19" NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_provenance.
- NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_assertion wasGeneratedBy ECO_0000203 NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_provenance.
- NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_assertion wasDerivedFrom befree-2016 NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_provenance.
- NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_assertion SIO_000772 16892407 NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_provenance.
- NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_assertion evidence source_evidence_literature NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_provenance.
- NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_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." NP563136.RAdtTbfAFDIlxx2RvqC1ssfouPeEfRklaycCBGpeees7k130_provenance.