Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.T217I
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PANK2

NM_001386393.1:p.T217I

Associated Papers

Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.

Talaverón-Rey M et al.

Orphanet Journal of Rare Diseases, 2023

Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.

Álvarez-Córdoba M et al.

Orphanet Journal of Rare Diseases, 2022

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

Darling A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

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

Hayflick SJ et al.

The New England Journal of Medicine, 2003

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

Zhou B et al.

Nature Genetics, 2001

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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."