rs1167512470
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
|
26976849 |
2016 |
rs1555783543
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
|
26976849 |
2016 |
rs1167512470
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.
|
25462087 |
2015 |
rs1555783543
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.
|
25462087 |
2015 |
rs1167512470
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
|
23107375 |
2012 |
rs1167512470
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.
|
22824638 |
2012 |
rs1167512470
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
|
22740598 |
2012 |
rs1555783543
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
|
23107375 |
2012 |
rs1555783543
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.
|
22824638 |
2012 |
rs1555783543
|
Entrez Id: |
113278 |
Gene Symbol: |
SLC52A3 |
SLC52A3
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
|
22740598 |
2012 |