Publication
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
Authors not recorded
Nat Genet1996PMID 8640234stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
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Linked entities
Linked entities (2)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 2
- geneFGFR3civic_curation1.00
- variantFGFR3 R248Ccivic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 8640234
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| FGFR3 R248C1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 5 | accepted | EID8946In BaF3 cells, the R248C mutant was shown to fully activate FGFR3 with complete independence of the ligand presence. Ligand independent activation was determined by proliferation, phosphorylation, and… (full text at CIViC) PMID 8640234 · Naski et al., 1996 · Open in CIViC | civic |