Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_assertion> ?p ?o ?g. }
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- NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_assertion type Assertion NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_head.
- NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_assertion description "[TGFBR2 and TGFBR1 mutations were identified in a subset of patients with MFS (MFS2, OMIM #154705) and other MFS-related disorders, including Loeys-Dietz syndrome (LDS, #OMIM 609192) and familial thoracic aortic aneurysms and dissections (TAAD2, #OMIM 608987).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_provenance.
- NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_assertion evidence source_evidence_literature NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_provenance.
- NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_assertion SIO_000772 17061023 NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_provenance.
- NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_assertion wasDerivedFrom befree-20150227 NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_provenance.
- NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_assertion wasGeneratedBy ECO_0000203 NP734399.RAdyjrRlmD3zN5QyGWDUK3V573kxdnfCEpzZVJDeTQ_qI130_provenance.