Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_assertion> ?p ?o ?g. }
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- NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_assertion type Assertion NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_head.
- NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_assertion description "[Heterozygosity for mutations in the TGFBR1 or TGFBR2 genes cause Loeys-Dietz syndrome (LDS) types 2A and 2B that overlap with MFS1 in their clinical features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_provenance.
- NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_assertion evidence source_evidence_literature NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_provenance.
- NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_assertion SIO_000772 19159394 NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_provenance.
- NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_assertion wasDerivedFrom befree-2016 NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_provenance.
- NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_assertion wasGeneratedBy ECO_0000203 NP715833.RA915uqmsjTZ9xM3KoUZHgBd_VW4PpzePFJZH42ybSUcQ130_provenance.