Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance.
- NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_assertion wasGeneratedBy ECO_0000218 NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance.
- NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_assertion wasDerivedFrom uniprot-2016 NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance.
- NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_assertion SIO_000772 21683322 NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance.
- NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_assertion evidence source_evidence_curated NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance.
- NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_assertion description "[Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6683.RASdxmv68nr7l8NZULi6sP86_rZ5C94cF15ILtNWqQH7c130_provenance.