Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_assertion> ?p ?o ?g. }
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- NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_assertion type Assertion NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_head.
- NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_assertion description "[Mutations in the transcription factor gene SOX18 cause vascular, lymphatic and hair follicle defects in humans with dominant and recessive forms of hypotrichosis-lymphedema-telangiectasia (HLT) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_provenance.
- NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_assertion evidence source_evidence_literature NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_provenance.
- NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_assertion SIO_000772 19429912 NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_provenance.
- NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_assertion wasDerivedFrom befree-2016 NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_provenance.
- NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_assertion wasGeneratedBy ECO_0000203 NP737807.RAjbJof28fg1wJPe6abwLz9UzqCZdw2psK1P4AdprW7eU130_provenance.