Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.L217delFs
Back to variants list

SLC16A2

NM_006517.5:p.L217delFs

Associated Papers

Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants.

Martorell L et al.

Movement Disorders Clinical Practice, 2022

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."