Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_assertion> ?p ?o ?g. }
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- NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_assertion type Assertion NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_head.
- NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_assertion wasGeneratedBy ECO_0000203 NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_provenance.
- NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_assertion wasDerivedFrom befree-2016 NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_provenance.
- NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_assertion SIO_000772 23264078 NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_provenance.
- NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_assertion evidence source_evidence_literature NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_provenance.
- NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_assertion description "[Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition due to germline FLCN (folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1038319.RASrX0udmHr0nC7lbDfrQtXrMoUJL1h41twGHq823FxAw130_provenance.