Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_assertion> ?p ?o ?g. }
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- NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_assertion type Assertion NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_head.
- NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_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." NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_provenance.
- NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_assertion evidence source_evidence_literature NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_provenance.
- NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_assertion SIO_000772 22863195 NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_provenance.
- NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_assertion wasDerivedFrom befree-20140225 NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_provenance.
- NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_assertion wasGeneratedBy ECO_0000203 NP221462.RAMD88V-E4V2QDPD23oWLKI1hZ-FZdXMSZSxfw0fxk4JM130_provenance.