Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_assertion type Assertion NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_head.
- NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_assertion description "[Mutations in major structural components of elastic fibres, especially elastin, fibrillins and fibulin-5, cause severe, often life-threatening, heritable connective tissue diseases such as Marfan syndrome, supravalvular aortic stenosis and cutis laxa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_provenance.
- NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_assertion evidence source_evidence_literature NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_provenance.
- NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_assertion SIO_000772 16893474 NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_provenance.
- NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_assertion wasDerivedFrom befree-2016 NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_provenance.
- NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_assertion wasGeneratedBy ECO_0000203 NP563175.RAIlxQbWah_hnADCuRNezn7aFLvG21EoMeYtRiJy_mtKE130_provenance.