Varaico: Literature-Extracted Genetic Variants

Gene:AGO2
Variant:p.G201V
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AGO2

NM_012154.5:p.G201V

Associated Papers

Neurodevelopmental disorder-linked Argonaute mutations permit delayed RISC formation and unusual shortening of miRNAs by 3'→5' trimming.

Savidge A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Identification of a novel AGO2 variant causing LESKRES in a Chinese family with intellectual disability.

Yang S et al.

Frontiers in Genetics, 2025

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S2.xlsx › table_S2

Germline AGO2 mutations impair RNA interference and human neurological development.

Lessel D et al.

Nature Communications, 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."