rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).
|
26669662 |
2016 |
rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
|
27702554 |
2016 |
rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
|
24253200 |
2014 |
rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.
|
24616084 |
2014 |
rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
|
25133958 |
2014 |
rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
|
24253200 |
2014 |
rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
|
23243084 |
2013 |
rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
|
22740598 |
2012 |
rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
|
22740598 |
2012 |
rs398124641
|
FBXL6;SLC52A2
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
|
22864630 |
2012 |