Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_assertion> ?p ?o ?g. }
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- NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_assertion type Assertion NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_head.
- NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_assertion description "[A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_provenance.
- NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_assertion evidence source_evidence_literature NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_provenance.
- NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_assertion SIO_000772 8339541 NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_provenance.
- NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_assertion wasDerivedFrom befree-2016 NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_provenance.
- NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_assertion wasGeneratedBy ECO_0000203 NP1339130.RAyGG-ugwgmR0QgsHnbNHsxw7oCkUYU5LYtaBaR91LqJs130_provenance.