Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R190insFs
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PANK2

NM_001386393.1:p.R190insFs

Associated Papers

Mitochondrial and autophagic dysfunctions of skin fibroblasts derived from pantothenate kinase-associated neurodegeneration patients carrying PANK2 mutations and the rescuing effects of allantoin.

Zhu J et al.

Parkinsonism & Related Disorders, 2025

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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."