Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1430694.RACUdgOXYPKtGnWIL9YkF0gBydJNmBmEkxh2Eu6L6Ty1c#assertion> ?p ?o ?g. }
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- assertion description "[A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 22863195 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.