Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.L210_K224delFs
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PANK2

NM_153638.4:p.L210_K224delFs

Associated Papers

Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.

Pan S et al.

Neurocase, 2020

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

Brezavar D et al.

Molecular Genetics and Metabolism, 2019

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

Shan J et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013

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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."