Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_assertion> ?p ?o ?g. }
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- NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_assertion type Assertion NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_head.
- NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_assertion description "[Here, we have used several of these cloned DNAs to demonstrate the presence of an internal deletion of about 0.5 kilobases (kb) in one allele for the pro alpha 1(I) chain in a patient with osteogenesis imperfecta (OI), a group of heritable disorders which are characterized by brittle bones but which are highly heterogeneous both phenotypically and biochemically.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_provenance.
- NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_assertion evidence source_evidence_literature NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_provenance.
- NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_assertion SIO_000772 6191221 NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_provenance.
- NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_assertion wasDerivedFrom befree-2016 NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_provenance.
- NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_assertion wasGeneratedBy ECO_0000203 NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_provenance.