Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.A147insFs
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PANK2

NM_001386393.1:p.A147insFs

Associated Papers

Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.

Woltjer RL et al.

Molecular Genetics and Metabolism, 2015

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.

Kruer MC et al.

Brain : a Journal of Neurology, 2011

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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."