Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.M182insFs
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PANK2

NM_001386393.1:p.M182insFs

Associated Papers

Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus.

Mehta S et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2019

Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.

Zhang YM et al.

The Journal of Biological Chemistry, 2006

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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."