Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_assertion> ?p ?o ?g. }
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- NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_assertion type Assertion NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_head.
- NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_assertion description "[Achondroplasia (ACH) and thanatophoric dysplasia (TD) are caused by gain-of-function mutations of fibroblast growth factor receptor 3 (FGFR3) and they are the most common forms of dwarfism and lethal dwarfism, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_provenance.
- NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_assertion evidence source_evidence_literature NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_provenance.
- NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_assertion SIO_000772 22634226 NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_provenance.
- NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_assertion wasDerivedFrom befree-2016 NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_provenance.
- NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_assertion wasGeneratedBy ECO_0000203 NP985264.RAelhhxAgghS57RfZ0xPM-8TuA6fyF4DHPVdyByXSez0U130_provenance.