Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.I529V
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PANK2

NM_153638.4:p.I529V

Associated Papers

Patient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration.

Chan JL et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024

Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.

Liang TW et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).

Egan RA et al.

American Journal of Ophthalmology, 2005

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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."