Varaico: Literature-Extracted Genetic Variants

Gene:CNOT2
Variant:p.T480delFs
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CNOT2

NM_014515.7:p.T480delFs

Associated Papers

Improved diagnosis of patients with rare diseases through the application of constrained coding region annotation and de novo status.

Odhams C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."