Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_assertion> ?p ?o ?g. }
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- NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_assertion type Assertion NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_head.
- NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_assertion description "[Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_provenance.
- NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_assertion evidence source_evidence_literature NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_provenance.
- NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_assertion SIO_000772 22821627 NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_provenance.
- NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_assertion wasDerivedFrom befree-20150227 NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_provenance.
- NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_assertion wasGeneratedBy ECO_0000203 NP470516.RAVGVwjFwvbo2SwKC422RwEkGJWwPukLd1oQIf92N57ZM130_provenance.