Varaico: Literature-Extracted Genetic Variants

Gene:AGO2
Variant:p.T357M
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AGO2

NM_012154.5:p.T357M

Associated Papers

Dysregulation of AGO2-miRNA dynamics underlies the AGO2-associated Lessel-Kreienkamp syndrome.

Liu TM et al.

Nucleic Acids Research, 2025

Ribonucleases in Mendelian disease: Characterization and insight from model organisms.

Dutta A et al.

Genes & Diseases, 2025

41630789 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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

Yang S et al.

Frontiers in Genetics, 2025

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Stutterd CA et al.

European Journal of Medical Genetics, 2022

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."