Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP398401.RAm2MV5GJgoWTngjSMlbKDbKvniRMeOY8xEzxn49gZnD4#assertion> ?p ?o ?g. }
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- assertion description "[Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10200283 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.