Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.Q523*
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SLC20A2

NM_001257180.2:p.Q523*

Associated Papers

Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.

Yang D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40970454 (PubMed )
Supplement: supplement_1.pdf

Expanding the phenotype associated with biallelic SLC20A2 variants.

D'Onofrio G et al.

European Journal of Human Genetics : Ejhg, 2023

Genetic updates on paroxysmal dyskinesias.

Liao JY et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses.

Zhan FX et al.

Neuroscience Letters, 2020

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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."