Varaico: Literature-Extracted Genetic Variants

Gene:PPCS
Variant:p.Y78H
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PPCS

NM_024664.4:p.Y78H

Associated Papers

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

Zhang F et al.

Communications Medicine, 2025

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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."