Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP388739.RA_rZke7OIcmhnU_2Zmk3Tv5P8tmx2oFa67ag8mHqLLkA#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 21683322 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Although enhanced TGF? signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.