Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_assertion> ?p ?o ?g. }
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- NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_assertion type Assertion NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_head.
- NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_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." NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_provenance.
- NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_assertion evidence source_evidence_literature NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_provenance.
- NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_assertion SIO_000772 22863195 NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_provenance.
- NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_assertion wasDerivedFrom befree-2016 NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_provenance.
- NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_assertion wasGeneratedBy ECO_0000203 NP1002723.RAF0fkUOKKi3D8YfDHoBzeQfCNeD-iGjcAxEqTdToEBa8130_provenance.