Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_assertion> ?p ?o ?g. }
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- NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_assertion type Assertion NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_head.
- NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_assertion description "[Diseases linked to the elastin gene arise from loss-of-function mutations leading to protein insufficiency (supravalvular aortic stenosis) or from missense mutations that alter the properties of the elastin protein (dominant cutis laxa).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_provenance.
- NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_assertion evidence source_evidence_literature NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_provenance.
- NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_assertion SIO_000772 17626896 NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_provenance.
- NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_assertion wasDerivedFrom befree-2016 NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_provenance.
- NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_assertion wasGeneratedBy ECO_0000203 NP619781.RARXhEjY2I5qqjgd_fyFOnwHC64tn_3m3uGT2yKO24l8A130_provenance.