Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_assertion> ?p ?o ?g. }
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- NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_assertion type Assertion NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_head.
- NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_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." NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_provenance.
- NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_assertion evidence source_evidence_literature NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_provenance.
- NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_assertion SIO_000772 17061023 NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_provenance.
- NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_assertion wasDerivedFrom befree-20140225 NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_provenance.
- NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_assertion wasGeneratedBy ECO_0000203 NP204975.RAonI2G47zpguCeZa9GNzr9mDXNnAmiawM2vAJOQvhwJc130_provenance.