Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_assertion type Assertion NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_head.
- NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_assertion description "[We present the first five cases of a new recessive bone disorder resulting from null LEPRE1 alleles; its phenotype overlaps with lethal/severe osteogenesis imperfecta but has distinctive features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_provenance.
- NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_assertion evidence source_evidence_literature NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_provenance.
- NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_assertion SIO_000772 17277775 NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_provenance.
- NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_assertion wasDerivedFrom befree-2016 NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_provenance.
- NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_assertion wasGeneratedBy ECO_0000203 NP592271.RACpatCrEByqPm2ibMsS68RCyo-2n9RuzAt7GOWJrhXzM130_provenance.