Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_assertion type Assertion NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_head.
- NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_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." NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_provenance.
- NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_assertion evidence source_evidence_literature NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_provenance.
- NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_assertion SIO_000772 22863195 NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_provenance.
- NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_assertion wasDerivedFrom befree-20140225 NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_provenance.
- NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_assertion wasGeneratedBy ECO_0000203 NP939055.RAI2MDJ2wDV8MkamMnZrpMN33vDtZFZ2QzjGjJ8DC20EE130_provenance.