Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_assertion type Assertion NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_head.
- NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_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." NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_provenance.
- NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_assertion evidence source_evidence_literature NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_provenance.
- NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_assertion SIO_000772 22863195 NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_provenance.
- NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_assertion wasDerivedFrom befree-20150227 NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_provenance.
- NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_assertion wasGeneratedBy ECO_0000203 NP989439.RA4JykVjIHPAs4FpspiHgLy-QCczh9Blx8mH4FEiQglsk130_provenance.