rs121918491
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
rs1057519037
|
|
AA |
0.700 |
CausalMutation |
CLINVAR |
Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.
|
25361936 |
2014 |
rs121918491
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
|
9586546 |
1998 |
rs121918491
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
1994 |
rs1057519037
|
|
AA |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |
rs121918491
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
|
16158432 |
2005 |
rs1057519043
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.
|
23754559 |
2013 |
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Screening of patients with craniosynostosis: molecular strategy.
|
12884424 |
2003 |
rs1057519043
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
rs1057519043
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
[Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases].
|
12575301 |
2002 |