Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.Y536C
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PANK2

NM_153638.4:p.Y536C

Associated Papers

Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.

Pan S et al.

Neurocase, 2020

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.

Lee JH et al.

Journal of Movement Disorders, 2016

Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.

Lim BC et al.

European Journal of Neurology, 2012

A novel PANK2 mutation in a 12-year-old Chinese boy with pantothenate kinase-associated neurodegeneration.

Pan LS et al.

Neurology India, 0

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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."