Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.G521R
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COASY

NM_025233.7:p.G521R

Associated Papers

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Hartig MB et al.

Annals of Neurology, 2006

Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.

Zhang YM et al.

The Journal of Biological Chemistry, 2006

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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."