Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.L743P
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CPS1

NM_001875.5:p.L743P

Associated Papers

Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.

Zhang Z et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023

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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."