Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_assertion type Assertion NP464377.RAzvmJie3ymc_ppk8uP9HRzXtY6h54-DWdVw8HNNtzx4w130_head.
- 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.