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- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion type Assertion NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_head.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion wasGeneratedBy ECO_0000203 NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion wasDerivedFrom befree-20150227 NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion SIO_000772 19251738 NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion evidence source_evidence_literature NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.