Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.N500I
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PANK2

NM_153638.4:p.N500I

Associated Papers

Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients.

Giuliano M et al.

Genes, 2025

Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.

Li WB et al.

Frontiers in Aging Neuroscience, 2022

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.

Santambrogio P et al.

International Journal of Molecular Sciences, 2020

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."