Varaico: Literature-Extracted Genetic Variants

Gene:PPCS
Variant:p.V210A
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PPCS

NM_024664.4:p.V210A

Associated Papers

The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.

Yılmaz-Gümüş E et al.

Molecular Genetics and Metabolism, 2026

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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."