Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.A288G
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PANK2

NM_001386393.1:p.A288G

Associated Papers

Distinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in C19orf12 but Not in PANK2 Mutation Carriers.

Skowrońska M et al.

Cells, 2025

Serum metabolomics indicates ferroptosis in patients with pantothenate kinase associated neurodegeneration.

Toczylowska B et al.

Scientific Reports, 2025

PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.

Werning M et al.

Annals of Clinical and Translational Neurology, 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."