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- source_evidence_literature type ECO_0000212 NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP1305044.RAVt-W3vgiqRWdcgQleQE95h-w_4jjIExEU-OLgyu0AvI130_provenance.