Variant: rs148234606 

    present in Gene: SLC52A2
    present in Chromosome: 8
    Position on Chromosome: 144360604
    Alleles of this Variant: T/C

rs148234606 in SLC52A2 gene and BROWN-VIALETTO-VAN LAERE SYNDROME 2 PMID 23243084 2013 Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.

PMID 27148561 2015 Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

PMID 25807286 2015 Large-scale whole-genome sequencing of the Icelandic population.

PMID 22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

PMID 27702554 2016 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.

PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 25798182 2015 Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology.

PMID 22864630 2012 Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

rs148234606 in SLC52A2 gene and Dysmorphic features PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 27702554 2016 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.

rs148234606 in SLC52A2 gene and Movement Disorders PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

PMID 27702554 2016 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.

rs148234606 in SLC52A2 gene and Muscle hypotonia PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 27702554 2016 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.

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.