Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_assertion> ?p ?o ?g. }
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- NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_assertion type Assertion NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_head.
- NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_assertion description "[In three patients, we detected genomic imbalances associated with the observed diaphragmatic hernia; a deletion of 8p22-p23.3, 14.2 Mb in size, a 340 kb duplication of Xq13.1 including the ephrin-B1 gene (EFNB1), and mosaicism for trisomy 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_provenance.
- NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_assertion evidence source_evidence_literature NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_provenance.
- NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_assertion SIO_000772 21064195 NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_provenance.
- NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_assertion wasDerivedFrom befree-20150227 NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_provenance.
- NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_assertion wasGeneratedBy ECO_0000203 NP366846.RAfraluusiW3IHsmKo1EP2EcBc5o2z3fQI367okPzmYP0130_provenance.