Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.R275L
Back to variants list

SLC52A2

NM_001363118.2:p.R275L

Associated Papers

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.

Carreau C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2020

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature.

Ho KWD et al.

Case Reports in Genetics, 2018

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."