rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
|
12630957 |
2003 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.
|
12400065 |
2002 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
|
11468277 |
2001 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
|
11175783 |
2001 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
|
18372316 |
2008 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).
|
15257268 |
2004 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
|
16454982 |
2006 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
|
12529855 |
2003 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
|
18642388 |
2008 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.
|
17089161 |
2007 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.
|
12938087 |
2003 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.
|
18484667 |
2008 |
rs797044527
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs797044527
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs1057516168
|
|
|
0.710 |
GeneticVariation |
BEFREE |
DNA sequence analysis showed that the BPES phenotype in this family was caused by a novel missense mutation, c.881A->G (p.Y215C).
|
15257268 |
2004 |
rs1057516142
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516144
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516145
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516149
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516151
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516153
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516156
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516157
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516159
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1226344391
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|