Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R532W
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PANK2

NM_153638.4:p.R532W

Associated Papers

Rare PANK2 variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic.

Vardarajan BN et al.

Brain Communications, 2025

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

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."