Varaico: Literature-Extracted Genetic Variants

Gene:PAICS
Variant:p.S179P
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PAICS

NM_001079524.2:p.S179P

Associated Papers

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.

Weng WC et al.

European Journal of Human Genetics : Ejhg, 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."