Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance.
- NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_assertion description "[Based on these findings, we propose that the t(12;22) results in haploinsufficiency of the FBLN1-D variant, which could lead to the observed limb malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance.
- NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_assertion evidence source_evidence_literature NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance.
- NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_assertion SIO_000772 11836357 NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance.
- NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_assertion wasDerivedFrom befree-20140225 NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance.
- NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_assertion wasGeneratedBy ECO_0000203 NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance.
- befree-20140225 importedOn "2014-02-25" NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_provenance.