rs28933068
|
|
Craniosynostosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
|
25614871 |
2014 |
rs28933068
|
|
Craniosynostosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
|
25614871 |
2014 |
rs28933068
|
|
Craniosynostosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
|
23165795 |
2012 |
rs28933068
|
|
Craniosynostosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
|
23149434 |
2012 |
rs28933068
|
|
Craniosynostosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
|
23165795 |
2012 |
rs28933068
|
|
Craniosynostosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
|
11754059 |
2001 |
rs28933068
|
|
Craniosynostosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
|
11055896 |
2000 |
rs28933068
|
|
Craniosynostosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
|
11055896 |
2000 |
rs28933068
|
|
Craniosynostosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Achondroplasia-hypochondroplasia complex in a newborn infant.
|
10360392 |
1999 |
rs28933068
|
|
Craniosynostosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
|
9452043 |
1998 |
rs28933068
|
|
Craniosynostosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
|
9452043 |
1998 |
rs28933068
|
|
Craniosynostosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A common FGFR3 gene mutation in hypochondroplasia.
|
8589686 |
1995 |
rs28933068
|
|
Craniosynostosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
|
7670477 |
1995 |
rs28933068
|
|
Craniosynostosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
|
7670477 |
1995 |
rs28933068
|
|
Craniosynostosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A common FGFR3 gene mutation in hypochondroplasia.
|
8589686 |
1995 |