Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_assertion> ?p ?o ?g. }
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- NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_assertion type Assertion NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_head.
- NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_assertion description "[Cleidocranial dysplasia (CCD, MIM#119600), for which the responsible gene is RUNX2, is a genetic disorder characterized by hypoplasia or aplasia of the clavicles, patent fontanelles, and a short stature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_provenance.
- NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_assertion evidence source_evidence_literature NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_provenance.
- NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_assertion SIO_000772 21040462 NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_provenance.
- NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_assertion wasDerivedFrom befree-2016 NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_provenance.
- NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_assertion wasGeneratedBy ECO_0000203 NP849563.RAswpC44INYcGaivw-oirptgqUtGKyjIVGf8gfxIui398130_provenance.