Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R176G
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PANK2

NM_001386393.1:p.R176G

Associated Papers

Dyslipidemia and hypercalciuria in a patient with pantothenate kinase 2 deficiency: A novel variant and case report.

Rodriguez-Perez HM et al.

Sage Open Medical Case Reports, 2024

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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."