Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.A492V
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PANK2

NM_153638.4:p.A492V

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

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Schneider SA et al.

Current Neuropharmacology, 2013

Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration.

Mikati MA et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

Cangül H et al.

The Turkish Journal of Pediatrics, 0

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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."