Table A.

Thanatophoric Dysplasia: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
FGFR3 4p16​.3 Fibroblast growth factor receptor 3 FGFR3 @ LOVD FGFR3 FGFR3

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

From: Thanatophoric Dysplasia

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