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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNOT3

Variant:p.A480insFs

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CNOT3

NM_014516.4:p.A480insFs

hg38:chr19:54149586 C>CG

Associated Papers

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

Engel C et al.

European Journal of Human Genetics : Ejhg, 2025

40562808 (PubMed )

Supplement: 41431_2025_1884_MOESM3_ESM.xlsx › Supp_data_3

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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."