Varaico: Literature-Extracted Genetic Variants

Gene:AGO2
Variant:p.H203Q
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AGO2

NM_012154.5:p.H203Q

Associated Papers

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

Yang S et al.

Frontiers in Genetics, 2025

Germline AGO2 mutations impair RNA interference and human neurological development.

Lessel D et al.

Nature Communications, 2020

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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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."