Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.L275fs
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PANK2

NM_001386393.1:p.L275fs

Associated Papers

Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.

Kaymak A et al.

Annals of Neurology, 2025

Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans.

Brezavar D et al.

Molecular Genetics and Metabolism, 2019

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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."