rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
0.810
GeneticVariation
BEFREE
The observation that the Ser252Phe mutation causes Apert syndrome , whereas the other single or double substitutions are associated with milder or normal phenotypes, highlights the exquisitely specific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrome .
9002682
1997
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
AA
0.810
GeneticVariation
CLINVAR
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
AA
0.810
CausalMutation
CLINVAR
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
0.810
GeneticVariation
UNIPROT
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
11781872
2002
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
0.810
GeneticVariation
UNIPROT
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.
9452027
1998
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
0.810
GeneticVariation
UNIPROT
Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.
15190072
2004
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
0.810
GeneticVariation
UNIPROT
The observation that the Ser252Phe mutation causes Apert syndrome , whereas the other single or double substitutions are associated with milder or normal phenotypes, highlights the exquisitely specific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrome .
9002682
1997
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
0.810
GeneticVariation
UNIPROT
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
11390973
2001
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
0.810
GeneticVariation
UNIPROT
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
7668257
1995
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
0.810
GeneticVariation
UNIPROT
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
7719344
1995
rs121918498
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Apert syndrome
0.810
GeneticVariation
UNIPROT
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
9677057
1998