Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.T274delFs
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PANK2

NM_153638.4:p.T274delFs

Associated Papers

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.

Werning M et al.

Biomolecules, 2022

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

Li WB et al.

Frontiers in Aging Neuroscience, 2022

35462688 (PubMed )
Supplement: Table_4.XLSX › Sheet1

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.

Santambrogio P et al.

International Journal of Molecular Sciences, 2020

Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans.

Brezavar D et al.

Molecular Genetics and Metabolism, 2019

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

Lee JH et al.

Journal of Movement Disorders, 2016

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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."