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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 23264078 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Birt-Hogg-Dub� 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." provenance.