Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.M792V
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CPS1

NM_001875.5:p.M792V

Associated Papers

Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation.

Guan J et al.

Stem Cell Research, 2024

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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."