Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.A492G
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PANK2

NM_153638.4:p.A492G

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

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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."