Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_assertion type Assertion NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_head.
- NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_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." NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance.
- NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_assertion evidence source_evidence_literature NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance.
- NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_assertion SIO_000772 11836357 NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance.
- NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_assertion wasDerivedFrom befree-2016 NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance.
- NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_assertion wasGeneratedBy ECO_0000203 NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance.