Varaico: Literature-Extracted Genetic Variants

Gene:CNOT3
Variant:p.L522I
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CNOT3

NM_014516.4:p.L522I

Associated Papers

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Engel C et al.

European Journal of Human Genetics : Ejhg, 2025

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Pinard A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."