Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_assertion> ?p ?o ?g. }
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- NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_assertion type Assertion NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_head.
- NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_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." NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_provenance.
- NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_assertion evidence source_evidence_literature NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_provenance.
- NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_assertion SIO_000772 23215558 NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_provenance.
- NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_assertion wasDerivedFrom befree-20150227 NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_provenance.
- NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_assertion wasGeneratedBy ECO_0000203 NP919687.RAoO9c7uRdYyWcnkwbmY_keUO2edCkTkF_0EQkRLr07JQ130_provenance.