Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_assertion> ?p ?o ?g. }
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- NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_assertion type Assertion NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_head.
- NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_assertion description "[We report on a 4-1/2 year old girl with apparent CHARGE association who had a de novo inverted duplication (14)(q22-->24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_provenance.
- NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_assertion evidence source_evidence_literature NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_provenance.
- NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_assertion SIO_000772 7573139 NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_provenance.
- NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_assertion wasDerivedFrom befree-2016 NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_provenance.
- NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_assertion wasGeneratedBy ECO_0000203 NP1313015.RAfzmKZ6BilQJLEstfmiPiwZo4fNQbg4AIImaSVa41sgs130_provenance.