Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP230903.RAUeY4z8Dhqmya1_KQXGnmqPibLSwW6RvlfllticdUSeo#assertion> ?p ?o ?g. }
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- assertion description "[To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilage have been shown to have mutations that result in Stickler syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16752401 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.