Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.D217G
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PANK2

NM_153638.4:p.D217G

Associated Papers

Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives.

Álvarez-Córdoba M et al.

Orphanet Journal of Rare Diseases, 2021

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

Pan S et al.

Neurocase, 2020

Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.

Shi X et al.

Medicine, 2018

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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."