Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP225520.RAgXCbsZtmEFxkFFIBJo8e8yYGsxiaBWjIS2qHS2LyRVU#assertion> ?p ?o ?g. }
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- assertion description "[A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 8339541 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.