Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP344508.RAQr6AE-rPL3GuDT4EEgI5sdg_59Xr3TsSxGvlwg2lVNg130_provenance.