Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_assertion> ?p ?o ?g. }
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- NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_assertion type Assertion NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_head.
- NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_assertion description "[Using a 13-day sequence and analysis pipeline, we discovered direct disruption of CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choanae, retardation, and genital and ear anomalies).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_provenance.
- NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_assertion evidence source_evidence_literature NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_provenance.
- NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_assertion SIO_000772 23215558 NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_provenance.
- NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_assertion wasDerivedFrom befree-20140225 NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_provenance.
- NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_assertion wasGeneratedBy ECO_0000203 NP717994.RAVkZR9B2rBbAhgQY62rZuzHNJMdJ4D25cJUen4Ul7ZYg130_provenance.