Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.L592P
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CPS1

NM_001875.5:p.L592P

Associated Papers

Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

Kido J et al.

American Journal of Medical Genetics. Part A, 2021

Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain.

Kido J et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."