|
rs397514652
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
|
23881059 |
2014 |
|
rs397514652
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
|
24568872 |
2014 |
|
rs397514652
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
|
24777706 |
2014 |
|
rs397514652
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
|
24024553 |
2014 |
|
rs397514653
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
|
24568872 |
2014 |
|
rs397514653
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
|
23881059 |
2014 |
|
rs397514653
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
|
24024553 |
2014 |
|
rs397514653
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
|
24777706 |
2014 |
|
rs397514652
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
|
23591992 |
2013 |
|
rs397514652
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in ALDH1A3 cause microphthalmia.
|
23646827 |
2013 |
|
rs397514652
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
|
23312594 |
2013 |
|
rs397514653
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in ALDH1A3 cause microphthalmia.
|
23646827 |
2013 |
|
rs397514653
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
|
23591992 |
2013 |
|
rs397514653
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
|
23312594 |
2013 |
|
rs397514652
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs397514653
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs386834230
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
|
23881059 |
2014 |
|
rs386834230
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
|
24777706 |
2014 |
|
rs386834230
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
|
24024553 |
2014 |
|
rs386834230
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
|
24568872 |
2014 |
|
rs754619607
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
|
24777706 |
2014 |
|
rs754619607
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
|
24024553 |
2014 |
|
rs754619607
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
|
23881059 |
2014 |
|
rs754619607
|
ALDH1A3;LOC101927751
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
|
24568872 |
2014 |
|
rs386834230
|
| Entrez Id: |
220 |
| Gene Symbol: |
ALDH1A3 |
ALDH1A3
|
MICROPHTHALMIA, ISOLATED 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
|
23312594 |
2013 |