Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion> ?p ?o ?g. }
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- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion type Assertion NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_head.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_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." NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion evidence source_evidence_literature NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion SIO_000772 19429912 NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion wasDerivedFrom befree-20140225 NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion wasGeneratedBy ECO_0000203 NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.