Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_assertion> ?p ?o ?g. }
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- NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_assertion type Assertion NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_head.
- NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_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." NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_provenance.
- NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_assertion evidence source_evidence_literature NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_provenance.
- NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_assertion SIO_000772 19429912 NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_provenance.
- NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_assertion wasDerivedFrom befree-20140225 NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_provenance.
- NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_assertion wasGeneratedBy ECO_0000203 NP437315.RADaAJ9he9-PdZqzFxdeP5jVh38xOAALBTltXrs3zsRJA130_provenance.