Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.L323P
Back to variants list

SLC52A2

NM_001363118.2:p.L323P

Associated Papers

Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.

Gorcenco S et al.

Journal of Neurology, 2024

First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.

Zhao S et al.

Frontiers in Genetics, 2022

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Gorcenco S et al.

Parkinsonism & Related Disorders, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."