|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
|
27481450 |
2016 |
|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
|
26362256 |
2015 |
|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
|
25271085 |
2015 |
|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
|
12884434 |
2003 |
|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Screening of patients with craniosynostosis: molecular strategy.
|
12884424 |
2003 |
|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
|
9586546 |
1998 |
|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
|
8644708 |
1996 |
|
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 |
|
rs121918487
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|