Varaico: Literature-Extracted Genetic Variants

Gene:CAD
Variant:p.R238C
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CAD

NM_004341.5:p.R238C

Associated Papers

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.

Häberle J et al.

Human Mutation, 2003

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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."