Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_assertion> ?p ?o ?g. }
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- NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_assertion type Assertion NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_head.
- NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_assertion wasGeneratedBy ECO_0000203 NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_provenance.
- NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_assertion wasDerivedFrom befree-20150227 NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_provenance.
- NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_assertion SIO_000772 23264078 NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_provenance.
- NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_assertion evidence source_evidence_literature NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_provenance.
- NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_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." NP979472.RACB6VaGIAdNDKrtN4twebFOYMk748UUMTtxh2ywqVAeI130_provenance.