Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_assertion> ?p ?o ?g. }
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- NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_assertion type Assertion NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_head.
- NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_assertion wasGeneratedBy ECO_0000203 NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_provenance.
- NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_assertion wasDerivedFrom befree-2016 NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_provenance.
- NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_assertion SIO_000772 19542084 NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_provenance.
- NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_assertion evidence source_evidence_literature NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_provenance.
- NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_assertion description "[Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP746417.RAnXo3stpnWUuNupYQ4r-OudI3oTIkOxmkD_AcurNKLTY130_provenance.