Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_assertion> ?p ?o ?g. }
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- NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_assertion type Assertion NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_head.
- NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_assertion wasGeneratedBy ECO_0000203 NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_provenance.
- NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_assertion wasDerivedFrom befree-20140225 NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_provenance.
- NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_assertion SIO_000772 21041284 NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_provenance.
- NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_assertion evidence source_evidence_literature NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_provenance.
- NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_assertion description "[Genetic testing revealed a novel de novo mutation in the CHD7 gene, one of the causative genes in CHARGE syndrome (coloboma, heart disease, choanal atresia, retarded growth and development and/or central nervous system anomalies, genital anomalies and/or hypogonadism, and ear anomalies and/or deafness).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP741266.RAggi-ZQxQC-PnTyuEZbbO4P9GGUlfrdfYaZOExKw3bUo130_provenance.