Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.E322G
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PANK2

NM_153638.4:p.E322G

Associated Papers

Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia.

Romito LM et al.

Parkinsonism & Related Disorders, 2024

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.

Santambrogio P et al.

International Journal of Molecular Sciences, 2020

Pallidal stimulation in atypical pantothenate kinase-associated neurodegeneration: six-year follow-up.

Picillo M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

Leoni V et al.

Molecular Genetics and Metabolism, 2012

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

Hayflick SJ et al.

The New England Journal of Medicine, 2003

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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."