Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_assertion> ?p ?o ?g. }
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- NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_assertion type Assertion NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_head.
- NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_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." NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_provenance.
- NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_assertion evidence source_evidence_literature NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_provenance.
- NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_assertion SIO_000772 23215558 NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_provenance.
- NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_assertion wasDerivedFrom befree-20140225 NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_provenance.
- NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_assertion wasGeneratedBy ECO_0000203 NP497397.RAEQhMwc270V3kwh7N0BJnCu0ARV5Dn8e4M05QoC2l85Q130_provenance.