Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_assertion type Assertion NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_head.
- NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_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." NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_provenance.
- NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_assertion evidence source_evidence_literature NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_provenance.
- NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_assertion SIO_000772 11836357 NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_provenance.
- NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_assertion wasDerivedFrom befree-20150227 NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_provenance.
- NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_assertion wasGeneratedBy ECO_0000203 NP394843.RAVqS3jMD4lDjgM57umEzZMbZ9Hg6vYAMk288U1NtHuT4130_provenance.