Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_assertion> ?p ?o ?g. }
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- NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_assertion type Assertion NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_head.
- NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_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." NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_provenance.
- NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_assertion evidence source_evidence_literature NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_provenance.
- NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_assertion SIO_000772 23215558 NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_provenance.
- NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_assertion wasDerivedFrom befree-2016 NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_provenance.
- NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_assertion wasGeneratedBy ECO_0000203 NP1033729.RA7NlZvZVRbJ6znq8D525VmysnP8yb0I8h9aAXaKd_22I130_provenance.