Varaico: Literature-Extracted Genetic Variants

Gene:AGO1
Variant:p.R253H
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AGO1

NM_012199.5:p.R253H

Associated Papers

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.

Takagi M et al.

American Journal of Medical Genetics. Part A, 2023

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

Schalk A et al.

Journal of Medical Genetics, 2022

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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."