Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.E763*
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CPS1

NM_001875.5:p.E763*

Associated Papers

Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.

Cen Z et al.

Orphanet Journal of Rare Diseases, 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."