Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP397233.RAOb1nakE2fnaBrti0K4GhtSJA7CIP_J8rpTWVy3ev7ok#assertion> ?p ?o ?g. }
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- assertion description "[Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 20034074 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.