Annotation Detail

Information
Associated Genes
FGFR3
Associated Variants
FGFR3 MUTATION
FGFR3 MUTATION
Associated Disease
Dwarfism
Source Database
DisGeNET
Description
A novel variant of FGFR3 causes proportionate short stature.
Pubmed
25777271
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00922902365073031
Drugs