Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP972007.RAnFerTETVSrMhUZHILbvqQVyZis6_6U5I_3Fd9x_omPY#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16892407 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.