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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPS1

Variant:p.L1388fs

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CPS1

NM_001875.5:p.L1388fs

hg38:chr2:210675728 CTG>N

Associated Papers

Expression and function of the urea cycle in widely-used hepatic cellular models.

Makris G et al.

Journal of Inherited Metabolic Disease, 2024

38192032 (PubMed )

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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."