Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance.
- NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_assertion wasGeneratedBy ECO_0000218 NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance.
- NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_assertion wasDerivedFrom uniprot-20130724 NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance.
- NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_assertion SIO_000772 16791849 NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance.
- NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_assertion evidence source_evidence_curated NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance.
- NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_assertion description "[Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2) have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6531.RAn7Zb5LL_Ewfs58su0lcscdxcW_gwAt1vE_VKFsqC9zw130_provenance.