rs28931614
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
rs28931614
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
rs28931614
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
rs28931614
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
10611230 |
2000 |
rs28931614
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
rs28931614
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
rs75790268
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
rs75790268
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
rs75790268
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
rs75790268
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
rs75790268
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
10611230 |
2000 |
rs75790268
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
rs121913105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
rs121913105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
rs121913105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
rs121913105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
10611230 |
2000 |
rs121913105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
rs121913105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
rs28931614
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
rs28931614
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
rs75790268
|
|
T |
0.850 |
CausalMutation |
CLINVAR |
|
|
|
rs121913105
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28933068
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
rs28933068
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
rs121913114
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|