Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_assertion> ?p ?o ?g. }
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- NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_assertion type Assertion NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_head.
- NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_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." NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_provenance.
- NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_assertion evidence source_evidence_literature NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_provenance.
- NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_assertion SIO_000772 11836357 NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_provenance.
- NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_assertion wasDerivedFrom befree-2016 NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_provenance.
- NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_assertion wasGeneratedBy ECO_0000203 NP344507.RALHBdDmvNwECJtbv7VmBcNlSl4gZxXEnAVPgURHCUJZE130_provenance.