Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_assertion> ?p ?o ?g. }
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- NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_assertion type Assertion NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_head.
- NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_assertion description "[Mutations in the genes encoding transforming growth factor-beta receptor types I and II (TGFBR1 and TGFBR2, respectively) are commonly identified in patients with Loeys-Dietz syndrome, as well as some patients with Marfan's syndrome or familial thoracic aortic aneurysms and dissections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_provenance.
- NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_assertion evidence source_evidence_literature NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_provenance.
- NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_assertion SIO_000772 18721526 NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_provenance.
- NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_assertion wasDerivedFrom befree-2016 NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_provenance.
- NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_assertion wasGeneratedBy ECO_0000203 NP689162.RABT7fsHTIfYyOzVfw6PkNlo-Sz-KtV9ewYLhdK2k1BGE130_provenance.