rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
|
24033328 |
2014 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation spectrum of PAX6 in Chinese patients with aniridia.
|
21850189 |
2011 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
|
17595013 |
2007 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular analysis of a human PAX6 homeobox mutant.
|
16493447 |
2006 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
|
12634864 |
2003 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations in the DNA-binding region and termination codon in PAX6.
|
12552561 |
2003 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.
|
11826019 |
2002 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
|
11553050 |
2001 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
|
11309364 |
2001 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation in the PAX6 gene in twenty patients with aniridia.
|
10737978 |
2000 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
|
9931324 |
1999 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
|
10234503 |
1999 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations in the PAX6 gene in aniridia.
|
9856761 |
1998 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Ten novel mutations found in Aniridia.
|
9792406 |
1998 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.
|
9281415 |
1997 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
Functional analysis of paired box missense mutations in the PAX6 gene.
|
9147640 |
1997 |
rs121907919
|
Entrez Id: |
5080 |
Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
|
0.700 |
GeneticVariation |
UNIPROT |
PAX6 mutations in aniridia.
|
8364574 |
1993 |